GRIN2Bglutamate receptor, inotropic, N-methyl D-apartate 2B
Autism Reports / Total Reports
43 / 90Rare Variants / Common Variants
205 / 32Chromosome Band
12p13.1Associated Disorders
DD/NDD, ADHD, ID, EP, EPS, ASDGenetic Category
Rare Single Gene Mutation, Syndromic, Genetic Association, FunctionalRelevance to Autism
Recurrent mutations in the GRIN2B gene have been identified in multiple individuals with ASD as described below. Myers et al. (2011) found an excess of rare non-synonymous mutations in GRIN2B in both autism and schizophrenia cases (PMID 21383861). O'Roak et al., 2011 identified an ASD proband from a simplex family with a de novo splice-site variant in GRIN2B; three additional de novo loss-of-function variants in GRIN2B were identified in ASD probands from simplex families in two subsequent reports from O'Roak and colleagues in 2012 (PMIDs 22495309 and 23160955). Analysis of rare coding variation in 3,871 ASD cases and 9,937 ancestry-matched or paternal controls from the Autism Sequencing Consortium (ASC) in De Rubeis et al., 2014 identified GRIN2B as a gene meeting high statistical significance with a FDR 0.01, meaning that this gene had a 99% chance of being a true autism gene (PMID 25363760). This gene was identified in Iossifov et al. 2015 as a strong candidate to be an ASD risk gene based on a combination of de novo mutational evidence and the absence or very low frequency of mutations in controls (PMID 26401017). A two-stage analysis of rare de novo and inherited coding variants in 42,607 ASD cases, including 35,130 new cases from the SPARK cohort, in Zhou et al., 2022 identified GRIN2B as a gene reaching exome-wide significance (P < 2.5E-06). Platzer et al., 2017 evaluated 48 novel and 43 previously published individuals with de novo GRIN2B variants; 13 of the 48 novel individuals in this report were reported to have ASD as a phenotype (PMID 28377535). Yoo et al. (2012) showed association of GRIN2B markers in a Korean ASD cohort of 151 families (PMID 22326929); other studies have also found genetic association of the GRIN2B gene with schizophrenia (Ohtsuki et al., 2001) and obsessive-compulsive disorder (Arnold et al., 2004).
Molecular Function
NMDA receptor subtype of glutamate-gated ion channels with high calcium permeability and voltage-dependent sensitivity to magnesium.
External Links
SFARI Genomic Platforms
Reports related to GRIN2B (90 Reports)
# | Type | Title | Author, Year | Autism Report | Associated Disorders |
---|---|---|---|---|---|
1 | Highly Cited | Mutation analysis of the NMDAR2B (GRIN2B) gene in schizophrenia | Ohtsuki T , et al. (2001) | No | - |
2 | Highly Cited | Association of a glutamate (NMDA) subunit receptor gene (GRIN2B) with obsessive-compulsive disorder: a preliminary study | Arnold PD , et al. (2004) | No | - |
3 | Recent Recommendation | Direct measure of the de novo mutation rate in autism and schizophrenia cohorts | Awadalla P , et al. (2010) | No | - |
4 | Support | Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes | Endele S , et al. (2010) | No | - |
5 | Recent Recommendation | Strain dependent effects of prenatal stress on gene expression in the rat hippocampus | Neeley EW , et al. (2011) | No | - |
6 | Recent Recommendation | A population genetic approach to mapping neurological disorder genes using deep resequencing | Myers RA , et al. (2011) | Yes | - |
7 | Primary | Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations | O'Roak BJ , et al. (2011) | Yes | - |
8 | Support | Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy | Klassen T , et al. (2011) | No | - |
9 | Positive Association | Family based association of GRIN2A and GRIN2B with Korean autism spectrum disorders | Yoo HJ , et al. (2012) | Yes | - |
10 | Support | Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries | Talkowski ME , et al. (2012) | Yes | - |
11 | Support | Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia | Tarabeux J , et al. (2011) | Yes | - |
12 | Support | Diagnostic exome sequencing in persons with severe intellectual disability | de Ligt J , et al. (2012) | No | Epilepsy, ASD |
13 | Support | Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders | O'Roak BJ , et al. (2012) | Yes | - |
14 | Recent Recommendation | Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene | Freunscht I , et al. (2013) | No | - |
15 | Support | Interstitial 12p13.1 deletion involving GRIN2B in three patients with intellectual disability | Dimassi S , et al. (2013) | No | ASD, Epilepsy |
16 | Positive Association | De novo mutations in epileptic encephalopathies | Epi4K Consortium , et al. (2013) | No | IS, LGS, DD, ID, ASD, ADHD |
17 | Support | Excess of rare novel loss-of-function variants in synaptic genes in schizophrenia and autism spectrum disorders | Kenny EM , et al. (2013) | Yes | - |
18 | Support | GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy | Lemke JR , et al. (2013) | No | Autistic behavior |
19 | Support | Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity | Adams DR , et al. (2014) | No | Hypoglycemia, lactic acidosis |
20 | Recent Recommendation | Neuronal excitation upregulates Tbr1, a high-confidence risk gene of autism, mediating Grin2b expression in the adult brain | Chuang HC , et al. (2014) | No | - |
21 | Positive Association | A candidate gene association study further corroborates involvement of contactin genes in autism | Poot M (2014) | Yes | - |
22 | Support | De novo mutations in moderate or severe intellectual disability | Hamdan FF , et al. (2014) | No | Microcephaly, absent speech |
23 | Recent Recommendation | Synaptic, transcriptional and chromatin genes disrupted in autism | De Rubeis S , et al. (2014) | Yes | - |
24 | Support | Recurrent de novo mutations implicate novel genes underlying simplex autism risk | O'Roak BJ , et al. (2014) | Yes | - |
25 | Support | Large-scale discovery of novel genetic causes of developmental disorders | Deciphering Developmental Disorders Study (2014) | No | - |
26 | Positive Association | Association of genetic variants of GRIN2B with autism | Pan Y , et al. (2015) | Yes | - |
27 | Recent Recommendation | Low load for disruptive mutations in autism genes and their biased transmission | Iossifov I , et al. (2015) | Yes | - |
28 | Support | Gene Mutation Analysis in 253 Chinese Children with Unexplained Epilepsy and Intellectual/Developmental Disabilities | Zhang Y , et al. (2015) | No | - |
29 | Support | Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability | Lelieveld SH et al. (2016) | No | - |
30 | Support | Mutation screening of GRIN2B in schizophrenia and autism spectrum disorder in a Japanese population | Takasaki Y , et al. (2016) | Yes | - |
31 | Support | De novo genic mutations among a Chinese autism spectrum disorder cohort | Wang T , et al. (2016) | Yes | - |
32 | Recent Recommendation | Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains | Swanger SA , et al. (2016) | No | - |
33 | Support | The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies | Redin C , et al. (2016) | Yes | - |
34 | Support | Clinical exome sequencing: results from 2819 samples reflecting 1000 families | Trujillano D , et al. (2016) | No | ASD |
35 | Support | Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation | Nilsson D , et al. (2016) | Yes | - |
36 | Support | Molecular Mechanism of Disease-Associated Mutations in the Pre-M1 Helix of NMDA Receptors and Potential Rescue Pharmacology | Ogden KK , et al. (2017) | No | - |
37 | Support | Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases | Stessman HA , et al. (2017) | Yes | - |
38 | Support | A Rare Variant Identified Within the GluN2B C-Terminus in a Patient with Autism Affects NMDA Receptor Surface Expression and Spine Density | Liu S , et al. (2017) | No | - |
39 | Support | A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology | Vissers LE , et al. (2017) | No | Psychomotor retardation |
40 | Recent Recommendation | GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects | Platzer K , et al. (2017) | No | DD, ID, ASD |
41 | Support | Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment | Chen XS , et al. (2017) | No | - |
42 | Support | Genomic diagnosis for children with intellectual disability and/or developmental delay | Bowling KM , et al. (2017) | No | Hypotonia, macrocephaly |
43 | Support | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder | Lim ET , et al. (2017) | Yes | - |
44 | Support | Diagnostic exome sequencing of syndromic epilepsy patients in clinical practice | Tumien B , et al. (2017) | No | - |
45 | Support | Disease-associated missense mutations in GluN2B subunit alter NMDA receptor ligand binding and ion channel properties | Fedele L , et al. (2018) | No | - |
46 | Recent Recommendation | Surface Expression, Function, and Pharmacology of Disease-Associated Mutations in the Membrane Domain of the Human GluN2B Subunit | Vyklicky V , et al. (2018) | No | - |
47 | Recent Recommendation | Disruption of GRIN2B Impairs Differentiation in Human Neurons | Bell S , et al. (2018) | No | - |
48 | Support | Atypical Rett Syndrome and Intractable Epilepsy With Novel GRIN2B Mutation | Kyriakopoulos P , et al. (2018) | No | Stereotypies |
49 | Support | Characterization of intellectual disability and autism comorbidity through gene panel sequencing | Aspromonte MC , et al. (2019) | Yes | - |
50 | Support | Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder | Munnich A , et al. (2019) | Yes | - |
51 | Support | De novo GRIN variants in NMDA receptor M2 channel pore-forming loop are associated with neurological diseases | Li J , et al. (2019) | No | - |
52 | Support | Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes | Feliciano P et al. (2019) | Yes | - |
53 | Support | An autism-associated mutation in GluN2B prevents NMDA receptor trafficking and interferes with dendrite growth | Sceniak MP , et al. (2019) | Yes | - |
54 | Support | Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism | Satterstrom FK et al. (2020) | Yes | - |
55 | Support | Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use | Husson T , et al. (2020) | Yes | - |
56 | Support | Genetic landscape of autism spectrum disorder in Vietnamese children | Tran KT et al. (2020) | Yes | - |
57 | Support | Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders | Wang T et al. (2020) | Yes | ID |
58 | Support | - | Rodin RE et al. (2021) | Yes | - |
59 | Support | - | Liu L et al. (2021) | No | ASD, DD |
60 | Support | - | Zou D et al. (2021) | Yes | - |
61 | Support | - | Kaur P et al. (2021) | No | DD |
62 | Support | - | Bahry JA et al. (2021) | Yes | - |
63 | Support | - | Pode-Shakked B et al. (2021) | No | Stereotypy |
64 | Support | - | Mahjani B et al. (2021) | Yes | - |
65 | Support | - | Xiang J et al. (2021) | No | - |
66 | Support | - | Li D et al. (2022) | Yes | - |
67 | Support | - | Wang X et al. (2022) | Yes | - |
68 | Support | - | Buonuomo PS et al. (2022) | No | Stereotypy |
69 | Support | - | Brock S et al. (2022) | No | - |
70 | Support | - | Chuan Z et al. (2022) | No | DD |
71 | Support | - | Stenshorne I et al. (2022) | No | - |
72 | Support | - | Zhou X et al. (2022) | Yes | - |
73 | Support | - | Zoodsma JD et al. (2022) | Yes | - |
74 | Support | - | Shimelis H et al. (2023) | No | - |
75 | Support | - | Kagan M et al. (2023) | No | - |
76 | Support | - | Yuan B et al. (2023) | Yes | - |
77 | Support | - | Spataro N et al. (2023) | No | ADHD, epilepsy/seizures |
78 | Recent Recommendation | - | Munz M et al. (2023) | Yes | - |
79 | Support | - | Hussein Y et al. (2023) | Yes | - |
80 | Support | - | Cirnigliaro M et al. (2023) | Yes | - |
81 | Support | - | Balasar et al. (2023) | No | - |
82 | Support | - | Lowther C et al. (2023) | Yes | - |
83 | Support | - | Mona Abdi et al. (2023) | Yes | DD, ID |
84 | Support | - | Hinde El Mouhi et al. (2023) | No | Autistic features, stereotypy |
85 | Support | - | Tamam Khalaf et al. (2024) | No | - |
86 | Support | - | Yuchen Xu et al. (2024) | No | - |
87 | Support | - | Soowon Lee et al. () | Yes | - |
88 | Support | - | Ruohao Wu et al. (2024) | Yes | - |
89 | Support | - | Miriam Candelas Serra et al. (2024) | Yes | - |
90 | Support | - | Axel Schmidt et al. (2024) | No | - |
Rare Variants (205)
Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
---|---|---|---|---|---|---|---|---|
- | - | inversion | De novo | - | - | 27841880 | Redin C , et al. (2016) | |
- | - | translocation | De novo | - | - | 20890276 | Endele S , et al. (2010) | |
- | - | inversion | De novo | - | - | 22521361 | Talkowski ME , et al. (2012) | |
- | - | translocation | De novo | - | - | 27862604 | Nilsson D , et al. (2016) | |
- | - | copy_number_loss | De novo | - | - | 36980980 | Spataro N et al. (2023) | |
- | - | copy_number_loss | De novo | - | - | 23918416 | Dimassi S , et al. (2013) | |
- | - | translocation | De novo | - | Simplex | 37595579 | Lowther C et al. (2023) | |
c.258T>A | p.Cys86Ter | stop_gained | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
c.538C>T | p.Gln180Ter | stop_gained | De novo | - | - | 35982159 | Zhou X et al. (2022) | |
c.1010+1G>A | - | splice_site_variant | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
c.1780+1G>A | - | splice_site_variant | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
c.2010+1G>C | - | splice_site_variant | De novo | - | - | 33004838 | Wang T et al. (2020) | |
c.1437C>A | p.Tyr479Ter | stop_gained | De novo | - | - | 33004838 | Wang T et al. (2020) | |
c.2539C>T | p.Arg847Ter | stop_gained | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
c.3437G>A | p.Trp1146Ter | stop_gained | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
c.1555C>T | p.Arg519Ter | stop_gained | De novo | - | - | 27824329 | Wang T , et al. (2016) | |
c.411+1G>A | - | splice_site_variant | De novo | - | - | 20890276 | Endele S , et al. (2010) | |
c.2360-2A>G | - | splice_site_variant | De novo | - | - | 20890276 | Endele S , et al. (2010) | |
c.2498T>C | p.Leu833Pro | missense_variant | Unknown | - | - | 34968013 | Li D et al. (2022) | |
c.286G>T | p.Gly96Trp | missense_variant | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
c.2131C>T | p.Gln711Ter | stop_gained | De novo | - | - | 24126926 | Kenny EM , et al. (2013) | |
c.1136G>A | p.Trp379Ter | stop_gained | Unknown | - | - | 34615535 | Mahjani B et al. (2021) | |
c.538C>T | p.Gln180Ter | stop_gained | De novo | - | - | 28377535 | Platzer K , et al. (2017) | |
c.737C>A | p.Ser246Ter | stop_gained | De novo | - | - | 28377535 | Platzer K , et al. (2017) | |
c.1619G>A | p.Arg540His | missense_variant | Unknown | - | - | 34145886 | Zou D et al. (2021) | |
c.1119G>A | p.Trp373Ter | stop_gained | De novo | - | - | 28377535 | Platzer K , et al. (2017) | |
c.1966C>T | p.Gln656Ter | stop_gained | De novo | - | - | 28377535 | Platzer K , et al. (2017) | |
c.2539C>T | p.Arg847Ter | stop_gained | De novo | - | - | 28377535 | Platzer K , et al. (2017) | |
c.3076G>A | p.Gly1026Ser | missense_variant | - | - | - | 22833210 | Tarabeux J , et al. (2011) | |
c.4244C>T | p.Ser1415Leu | missense_variant | - | - | - | 22833210 | Tarabeux J , et al. (2011) | |
c.1037G>A | p.Gly346Glu | missense_variant | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
c.1367G>A | p.Cys456Tyr | missense_variant | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
c.1556G>A | p.Arg519Gln | missense_variant | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
c.1570G>A | p.Asp524Asn | missense_variant | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
c.1619G>A | p.Arg540His | missense_variant | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
c.2002G>A | p.Asp668Asn | missense_variant | De novo | - | - | 33004838 | Wang T et al. (2020) | |
c.2002G>T | p.Asp668Tyr | missense_variant | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
c.2044C>T | p.Arg682Cys | missense_variant | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
c.2056G>A | p.Val686Met | missense_variant | De novo | - | - | 33004838 | Wang T et al. (2020) | |
c.2060C>T | p.Pro687Leu | missense_variant | De novo | - | - | 33004838 | Wang T et al. (2020) | |
c.2086C>A | p.Arg696Ser | missense_variant | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
c.2087G>A | p.Arg696His | missense_variant | De novo | - | - | 33004838 | Wang T et al. (2020) | |
c.2087G>A | p.Arg696His | missense_variant | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
c.2198C>T | p.Ala733Val | missense_variant | De novo | - | - | 33004838 | Wang T et al. (2020) | |
c.2791G>A | p.Val931Ile | missense_variant | De novo | - | - | 33004838 | Wang T et al. (2020) | |
c.2065G>A | p.Gly689Ser | missense_variant | De novo | - | - | 34302356 | Kaur P et al. (2021) | |
c.1556G>A | p.Arg519Gln | missense_variant | De novo | - | - | 35982159 | Zhou X et al. (2022) | |
c.1837G>A | p.Val613Met | missense_variant | De novo | - | - | 35982159 | Zhou X et al. (2022) | |
c.2087G>A | p.Arg696His | missense_variant | De novo | - | - | 35982159 | Zhou X et al. (2022) | |
c.2377G>A | p.Glu793Lys | missense_variant | De novo | - | - | 35982159 | Zhou X et al. (2022) | |
c.1427A>G | p.Tyr476Cys | missense_variant | De novo | - | - | 36881370 | Yuan B et al. (2023) | |
c.3012C>G | p.Tyr1004Ter | stop_gained | De novo | - | - | 28377535 | Platzer K , et al. (2017) | |
c.3931C>T | p.Gln1311Ter | stop_gained | Unknown | - | - | 36475376 | Shimelis H et al. (2023) | |
c.2539C>T | p.Arg847Ter | stop_gained | De novo | - | - | 35238837 | Buonuomo PS et al. (2022) | |
c.3722G>A | p.Arg1241Gln | missense_variant | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
c.3895C>T | p.Arg1299Cys | missense_variant | De novo | - | - | 33004838 | Wang T et al. (2020) | |
c.3766G>A | p.Glu1256Lys | missense_variant | De novo | - | - | 35982159 | Zhou X et al. (2022) | |
c.2515G>A | p.Glu839Lys | missense_variant | De novo | - | - | 35571021 | Chuan Z et al. (2022) | |
c.1555C>T | p.Arg519Ter | stop_gained | Unknown | - | - | 38438125 | Tamam Khalaf et al. (2024) | |
c.2644T>G | p.Ser882Ala | missense_variant | De novo | - | - | 33432195 | Rodin RE et al. (2021) | |
c.52G>A | p.Val18Ile | missense_variant | Unknown | - | - | 27616045 | Takasaki Y , et al. (2016) | |
c.2607C>G | p.Tyr869Ter | stop_gained | De novo | - | Simplex | 28714951 | Lim ET , et al. (2017) | |
c.2044C>T | p.Arg682Cys | missense_variant | De novo | - | - | 20890276 | Endele S , et al. (2010) | |
c.1619G>A | p.Arg540His | missense_variant | De novo | - | - | 24272827 | Lemke JR , et al. (2013) | |
c.1844A>T | p.Asn615Ile | missense_variant | De novo | - | - | 24272827 | Lemke JR , et al. (2013) | |
c.1853T>G | p.Val618Gly | missense_variant | De novo | - | - | 24272827 | Lemke JR , et al. (2013) | |
c.1238A>G | p.Glu413Gly | missense_variant | De novo | - | - | 24863970 | Adams DR , et al. (2014) | |
c.2395G>A | p.Gly799Ser | missense_variant | De novo | - | - | 29286531 | Tumien B , et al. (2017) | |
c.1619G>A | p.Arg540His | missense_variant | Unknown | - | - | 34615535 | Mahjani B et al. (2021) | |
c.2044C>T | p.Arg682Cys | missense_variant | Unknown | - | - | 34615535 | Mahjani B et al. (2021) | |
c.2087G>A | p.Arg696His | missense_variant | Unknown | - | - | 34615535 | Mahjani B et al. (2021) | |
c.448A>G | p.Ile150Val | missense_variant | De novo | - | - | 28377535 | Platzer K , et al. (2017) | |
c.1768G>A | p.Ala590Thr | missense_variant | Familial | - | - | 20890276 | Endele S , et al. (2010) | |
c.3993G>A | p.Met1331Ile | missense_variant | Unknown | - | - | 20890276 | Endele S , et al. (2010) | |
c.1658C>T | p.Pro553Leu | missense_variant | De novo | - | - | 23033978 | de Ligt J , et al. (2012) | |
c.1306T>C | p.Cys436Arg | missense_variant | De novo | - | - | 28377535 | Platzer K , et al. (2017) | |
c.1495G>A | p.Gly499Arg | missense_variant | De novo | - | - | 28377535 | Platzer K , et al. (2017) | |
c.1540A>G | p.Thr514Ala | missense_variant | De novo | - | - | 28377535 | Platzer K , et al. (2017) | |
c.1547A>G | p.Asn516Ser | missense_variant | De novo | - | - | 28377535 | Platzer K , et al. (2017) | |
c.1619G>A | p.Arg540His | missense_variant | De novo | - | - | 28377535 | Platzer K , et al. (2017) | |
c.1623C>G | p.Ser541Arg | missense_variant | De novo | - | - | 28377535 | Platzer K , et al. (2017) | |
c.1664G>T | p.Ser555Ile | missense_variant | De novo | - | - | 28377535 | Platzer K , et al. (2017) | |
c.1672G>A | p.Val558Ile | missense_variant | De novo | - | - | 28377535 | Platzer K , et al. (2017) | |
c.1832G>T | p.Gly611Val | missense_variant | De novo | - | - | 28377535 | Platzer K , et al. (2017) | |
c.1848C>G | p.Asn616Lys | missense_variant | De novo | - | - | 28377535 | Platzer K , et al. (2017) | |
c.1883C>G | p.Ser628Cys | missense_variant | De novo | - | - | 28377535 | Platzer K , et al. (2017) | |
c.1907C>T | p.Ala636Val | missense_variant | De novo | - | - | 28377535 | Platzer K , et al. (2017) | |
c.1916C>T | p.Ala639Val | missense_variant | De novo | - | - | 28377535 | Platzer K , et al. (2017) | |
c.1963A>T | p.Ile655Phe | missense_variant | De novo | - | - | 28377535 | Platzer K , et al. (2017) | |
c.1970A>G | p.Glu657Gly | missense_variant | De novo | - | - | 28377535 | Platzer K , et al. (2017) | |
c.2002G>T | p.Asp668Tyr | missense_variant | De novo | - | - | 28377535 | Platzer K , et al. (2017) | |
c.2065G>A | p.Gly689Ser | missense_variant | De novo | - | - | 28377535 | Platzer K , et al. (2017) | |
c.2079A>T | p.Arg693Ser | missense_variant | De novo | - | - | 28377535 | Platzer K , et al. (2017) | |
c.2084T>C | p.Ile695Thr | missense_variant | De novo | - | - | 28377535 | Platzer K , et al. (2017) | |
c.2087G>A | p.Arg696His | missense_variant | De novo | - | - | 28377535 | Platzer K , et al. (2017) | |
c.2116A>G | p.Met706Val | missense_variant | De novo | - | - | 28377535 | Platzer K , et al. (2017) | |
c.2201C>T | p.Ala734Val | missense_variant | De novo | - | - | 28377535 | Platzer K , et al. (2017) | |
c.2252T>C | p.Ile751Thr | missense_variant | De novo | - | - | 28377535 | Platzer K , et al. (2017) | |
c.2429G>A | p.Ser810Asn | missense_variant | De novo | - | - | 28377535 | Platzer K , et al. (2017) | |
c.2430C>A | p.Ser810Arg | missense_variant | De novo | - | - | 28377535 | Platzer K , et al. (2017) | |
c.2452A>C | p.Met818Leu | missense_variant | De novo | - | - | 28377535 | Platzer K , et al. (2017) | |
c.2453T>C | p.Met818Thr | missense_variant | De novo | - | - | 28377535 | Platzer K , et al. (2017) | |
c.2455G>A | p.Ala819Thr | missense_variant | De novo | - | - | 28377535 | Platzer K , et al. (2017) | |
c.2459G>C | p.Gly820Ala | missense_variant | De novo | - | - | 28377535 | Platzer K , et al. (2017) | |
c.2459G>T | p.Gly820Val | missense_variant | De novo | - | - | 28377535 | Platzer K , et al. (2017) | |
c.2477G>A | p.Gly826Glu | missense_variant | De novo | - | - | 28377535 | Platzer K , et al. (2017) | |
c.3912C>G | p.Tyr1304Ter | stop_gained | De novo | - | - | 37927744 | Hinde El Mouhi et al. (2023) | |
c.3332G>A | p.Arg1111His | missense_variant | De novo | - | - | 28377535 | Platzer K , et al. (2017) | |
c.2172-2A>G | - | splice_site_variant | De novo | - | Simplex | 21572417 | O'Roak BJ , et al. (2011) | |
c.2473T>G | p.Leu825Val | missense_variant | De novo | - | - | 20797689 | Awadalla P , et al. (2010) | |
c.1768G>A | p.Ala590Thr | missense_variant | Unknown | - | - | 27616045 | Takasaki Y , et al. (2016) | |
c.1306T>C | p.Cys436Arg | missense_variant | De novo | - | - | 27839871 | Swanger SA , et al. (2016) | |
c.2116A>G | p.Met706Val | missense_variant | De novo | - | - | 28333917 | Vissers LE , et al. (2017) | |
c.2053A>C | p.Thr685Pro | missense_variant | De novo | - | - | 28554332 | Bowling KM , et al. (2017) | |
c.2731C>T | p.Leu911= | synonymous_variant | De novo | - | - | 31452935 | Feliciano P et al. (2019) | |
c.1849T>A | p.Ser617Thr | missense_variant | De novo | - | Simplex | 33951346 | Liu L et al. (2021) | |
c.99dup | p.Ser34GlnfsTer25 | frameshift_variant | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
c.1677G>A | p.Trp559Ter | stop_gained | De novo | - | Simplex | 23160955 | O'Roak BJ , et al. (2012) | |
c.4270C>T | p.Leu1424Phe | missense_variant | Unknown | - | - | 22833210 | Tarabeux J , et al. (2011) | |
c.4355C>T | p.Ser1452Phe | missense_variant | Unknown | - | - | 22833210 | Tarabeux J , et al. (2011) | |
c.3118G>A | p.Gly1040Ser | missense_variant | Unknown | - | - | 27616045 | Takasaki Y , et al. (2016) | |
c.3296G>A | p.Arg1099His | missense_variant | Unknown | - | - | 27616045 | Takasaki Y , et al. (2016) | |
c.3875A>G | p.Lys1292Arg | missense_variant | Unknown | - | - | 27616045 | Takasaki Y , et al. (2016) | |
c.1906G>C | p.Ala636Pro | missense_variant | De novo | - | - | 23718928 | Freunscht I , et al. (2013) | |
c.1570G>A | p.Asp524Asn | missense_variant | De novo | - | - | 27479843 | Lelieveld SH et al. (2016) | |
c.1672G>A | p.Val558Ile | missense_variant | De novo | - | - | 27479843 | Lelieveld SH et al. (2016) | |
c.1376G>A | p.Gly459Glu | missense_variant | De novo | - | - | 28191889 | Stessman HA , et al. (2017) | |
c.1460G>C | p.Gly487Ala | missense_variant | De novo | - | - | 28191889 | Stessman HA , et al. (2017) | |
c.2459G>C | p.Gly820Ala | missense_variant | De novo | - | - | 35979408 | Stenshorne I et al. (2022) | |
c.2207T>C | p.Leu736Pro | missense_variant | De novo | - | - | 39039281 | Axel Schmidt et al. (2024) | |
c.996del | p.Asn333IlefsTer3 | frameshift_variant | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
c.2862_2863del | p.Cys954Ter | frameshift_variant | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
c.2515G>A | p.Glu839Lys | missense_variant | De novo | - | Simplex | 35982159 | Zhou X et al. (2022) | |
c.2793C>T | p.Val931= | synonymous_variant | Unknown | - | Simplex | 25656819 | Pan Y , et al. (2015) | |
c.2877C>T | p.Phe959= | synonymous_variant | Unknown | - | Simplex | 25656819 | Pan Y , et al. (2015) | |
c.2252T>C | p.Ile751Thr | missense_variant | De novo | - | - | 27848944 | Trujillano D , et al. (2016) | |
c.3683C>T | p.Thr1228Met | missense_variant | Unknown | - | Simplex | 25656819 | Pan Y , et al. (2015) | |
c.3429A>G | p.Ser1143= | synonymous_variant | Unknown | - | Simplex | 25656819 | Pan Y , et al. (2015) | |
c.3564C>G | p.Gly1188= | synonymous_variant | Unknown | - | Simplex | 25656819 | Pan Y , et al. (2015) | |
c.2087G>A | p.Arg696His | missense_variant | De novo | - | Simplex | 28714951 | Lim ET , et al. (2017) | |
c.2437C>G | p.Leu813Val | missense_variant | De novo | - | Simplex | 35393335 | Brock S et al. (2022) | |
c.2438T>C | p.Leu813Pro | missense_variant | De novo | - | Simplex | 35393335 | Brock S et al. (2022) | |
c.2453T>C | p.Met818Thr | missense_variant | De novo | - | Simplex | 35393335 | Brock S et al. (2022) | |
c.1661T>G | p.Phe554Cys | missense_variant | De novo | - | Simplex | 36699461 | Kagan M et al. (2023) | |
c.1555C>T | p.Arg519Ter | stop_gained | Unknown | - | Unknown | 25363760 | De Rubeis S , et al. (2014) | |
c.737C>A | p.Ser246Ter | stop_gained | De novo | - | Simplex | 27848944 | Trujillano D , et al. (2016) | |
c.1921A>C | p.Ile641Leu | missense_variant | De novo | - | - | 31209962 | Aspromonte MC , et al. (2019) | |
c.2087G>A | p.Arg696His | missense_variant | De novo | - | - | 31209962 | Aspromonte MC , et al. (2019) | |
c.2461G>C | p.Val821Leu | missense_variant | Unknown | - | - | 31209962 | Aspromonte MC , et al. (2019) | |
c.1985A>C | p.Gln662Pro | missense_variant | De novo | - | Simplex | 26544041 | Zhang Y , et al. (2015) | |
c.2926_2928del | p.Lys976del | inframe_deletion | De novo | - | - | 28377535 | Platzer K , et al. (2017) | |
c.804_824del | p.Val269_Thr275del | inframe_deletion | De novo | - | - | 35982159 | Zhou X et al. (2022) | |
c.4410T>C | p.Asn1470%3D | synonymous_variant | De novo | - | Simplex | 35982159 | Zhou X et al. (2022) | |
c.1711del | p.Ala571ProfsTer80 | frameshift_variant | De novo | - | - | 34858471 | Xiang J et al. (2021) | |
c.3680C>T | p.Thr1227Met | missense_variant | Unknown | - | Simplex | 37524782 | Balasar et al. (2023) | |
c.1246T>C | p.Phe416Leu | missense_variant | De novo | - | Simplex | 37805537 | Mona Abdi et al. (2023) | |
c.1922T>C | p.Ile641Thr | missense_variant | Unknown | - | Unknown | 38538865 | Yuchen Xu et al. (2024) | |
c.1937A>G | p.Tyr646Cys | missense_variant | De novo | - | Unknown | 38538865 | Yuchen Xu et al. (2024) | |
c.1946A>C | p.Asn649Thr | missense_variant | Unknown | - | Unknown | 38538865 | Yuchen Xu et al. (2024) | |
c.1946A>G | p.Asn649Ser | missense_variant | Unknown | - | Unknown | 38538865 | Yuchen Xu et al. (2024) | |
c.1954G>C | p.Ala652Pro | missense_variant | Unknown | - | Unknown | 38538865 | Yuchen Xu et al. (2024) | |
c.1955C>G | p.Ala652Gly | missense_variant | Unknown | - | Unknown | 38538865 | Yuchen Xu et al. (2024) | |
c.1957T>G | p.Phe653Val | missense_variant | Unknown | - | Unknown | 38538865 | Yuchen Xu et al. (2024) | |
c.2252T>C | p.Ile751Thr | missense_variant | De novo | - | Simplex | 38764027 | Ruohao Wu et al. (2024) | |
c.731C>T | p.Ala244Val | missense_variant | Unknown | - | Unknown | 21703448 | Klassen T , et al. (2011) | |
c.834C>A | p.Ile278= | synonymous_variant | Unknown | - | Unknown | 21703448 | Klassen T , et al. (2011) | |
c.1555C>T | p.Arg519Ter | stop_gained | De novo | - | Simplex | 31981491 | Satterstrom FK et al. (2020) | |
c.1928T>C | p.Leu643Pro | missense_variant | De novo | - | - | 30151416 | Kyriakopoulos P , et al. (2018) | |
c.1367G>A | p.Cys456Tyr | missense_variant | De novo | - | Simplex | 23160955 | O'Roak BJ , et al. (2012) | |
c.2459G>A | p.Gly820Glu | missense_variant | De novo | - | Simplex | 25356899 | Hamdan FF , et al. (2014) | |
c.1573T>G | p.Phe525Val | missense_variant | De novo | - | Simplex | 25418537 | O'Roak BJ , et al. (2014) | |
c.2084T>C | p.Ile695Thr | missense_variant | De novo | - | Simplex | 31406558 | Munnich A , et al. (2019) | |
c.2087G>A | p.Arg696His | missense_variant | De novo | - | Simplex | 31406558 | Munnich A , et al. (2019) | |
c.1440G>A | p.Leu480= | synonymous_variant | Unknown | - | Unknown | 21703448 | Klassen T , et al. (2011) | |
c.1382G>T | p.Cys461Phe | missense_variant | De novo | - | - | 23934111 | Epi4K Consortium , et al. (2013) | |
c.2555del | p.Gly852ValfsTer32 | frameshift_variant | De novo | - | - | 36980980 | Spataro N et al. (2023) | |
c.2825del | p.Thr942SerfsTer25 | frameshift_variant | De novo | - | - | 36980980 | Spataro N et al. (2023) | |
c.4107C>T | p.Gly1369= | synonymous_variant | Unknown | - | Unknown | 21703448 | Klassen T , et al. (2011) | |
c.2473T>G | p.Leu825Val | missense_variant | De novo | - | Simplex | 22833210 | Tarabeux J , et al. (2011) | |
c.2065G>A | p.Gly689Ser | missense_variant | De novo | - | Simplex | 35238837 | Buonuomo PS et al. (2022) | |
c.3799G>T | p.Ala1267Ser | missense_variant | Familial | Paternal | - | 20890276 | Endele S , et al. (2010) | |
c.2011-5_2011-4del | - | splice_site_variant | Familial | Paternal | - | 24272827 | Lemke JR , et al. (2013) | |
c.1619G>A | p.Arg540His | missense_variant | Unknown | - | Unknown | 25363760 | De Rubeis S , et al. (2014) | |
c.2087G>A | p.Arg696His | missense_variant | Unknown | - | Unknown | 25363760 | De Rubeis S , et al. (2014) | |
c.3937_3940del | p.Glu1313LysfsTer9 | frameshift_variant | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
c.3242G>A | p.Arg1081His | missense_variant | Unknown | - | Unknown | 25363760 | De Rubeis S , et al. (2014) | |
c.803_804del | p.Thr268SerfsTer15 | frameshift_variant | De novo | - | - | 20890276 | Endele S , et al. (2010) | |
c.1928T>C | p.Leu643Pro | missense_variant | De novo | - | Simplex | 34580403 | Pode-Shakked B et al. (2021) | |
c.2208dup | p.Asn737GlufsTer8 | frameshift_variant | De novo | - | Simplex | 32193494 | Tran KT et al. (2020) | |
c.2409_2419dup | p.Glu807ValfsTer7 | frameshift_variant | Unknown | - | - | 34615535 | Mahjani B et al. (2021) | |
c.91_92insC | p.Ser31ThrfsTer28 | frameshift_variant | De novo | - | - | 28191889 | Stessman HA , et al. (2017) | |
c.1460G>C | p.Gly487Ala | missense_variant | De novo | - | Multiplex | 37506195 | Cirnigliaro M et al. (2023) | |
c.3818C>A | p.Thr1273Lys | missense_variant | Familial | Paternal | Simplex | 25656819 | Pan Y , et al. (2015) | |
c.4015A>G | p.Met1339Val | missense_variant | Familial | Paternal | Simplex | 25656819 | Pan Y , et al. (2015) | |
c.2590_2593dup | p.Ser865AsnfsTer47 | frameshift_variant | Unknown | - | - | 34615535 | Mahjani B et al. (2021) | |
c.99dup | p.Ser34GlnfsTer25 | frameshift_variant | De novo | - | Simplex | 23160955 | O'Roak BJ , et al. (2012) | |
c.13del | p.Ala5ArgfsTer67 | frameshift_variant | Unknown | - | Unknown | 25363760 | De Rubeis S , et al. (2014) | |
c.23_24insC | p.Ser9PhefsTer50 | frameshift_variant | De novo | - | Simplex | 32094338 | Husson T , et al. (2020) | |
c.2384_2391del | p.Leu795HisfsTer7 | frameshift_variant | De novo | - | - | 28191889 | Stessman HA , et al. (2017) | |
c.1439_1446del | p.Leu480GlnfsTer35 | frameshift_variant | Unknown | - | - | 39039281 | Axel Schmidt et al. (2024) | |
c.4307G>C | p.Gly1436Ala | missense_variant | Familial | Paternal | Multiplex | 28440294 | Chen XS , et al. (2017) | |
c.2594del | p.Ser865ThrfsTer19 | frameshift_variant | Unknown | - | Unknown | 25363760 | De Rubeis S , et al. (2014) | |
c.2087G>A | p.Arg696His | missense_variant | De novo | - | Extended multiplex | 27839871 | Swanger SA , et al. (2016) | |
c.2394_2395insTGGCATTTGTCACAATG | p.Gly799TrpfsTer17 | frameshift_variant | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
c.2459G>C | p.Gly820Ala | missense_variant | De novo | - | Simplex | 25533962 | Deciphering Developmental Disorders Study (2014) |
Common Variants (32)
Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Paternal Transmission | Family Type | PubMed ID | Author, Year |
---|---|---|---|---|---|---|---|---|
c.-19+54228G>A | A/G | intron_variant | - | - | - | 25337070 | Poot M (2014) | |
- | G/A | downstream_gene_variant | - | - | - | 25656819 | Pan Y , et al. (2015) | |
c.1125+2272T>C | - | intron_variant | - | - | - | 25656819 | Pan Y , et al. (2015) | |
C4615T | - | 3_prime_UTR_variant | - | - | - | 11317224 | Ohtsuki T , et al. (2001) | |
c.411+8818T>C | G/A | intron_variant | - | - | - | 25656819 | Pan Y , et al. (2015) | |
5988T/C | - | 3_prime_UTR_variant | - | - | - | 11317224 | Ohtsuki T , et al. (2001) | |
c.1010+9696T>C | A/G | intron_variant | - | - | - | 25656819 | Pan Y , et al. (2015) | |
c.1125+3263A>G | A/G | intron_variant | - | - | - | 25656819 | Pan Y , et al. (2015) | |
c.1125+6440G>A | A/G | intron_variant | - | - | - | 25656819 | Pan Y , et al. (2015) | |
c.1125+8652A>G | A/G | intron_variant | - | - | - | 25656819 | Pan Y , et al. (2015) | |
c.411+18164C>A | A/C | intron_variant | - | - | - | 25656819 | Pan Y , et al. (2015) | |
c.411+37406T>G | C/A | intron_variant | - | - | - | 25656819 | Pan Y , et al. (2015) | |
c.412-44918A>C | C/A | intron_variant | - | - | - | 25656819 | Pan Y , et al. (2015) | |
c.412-46045T>C | G/A | intron_variant | - | - | - | 25656819 | Pan Y , et al. (2015) | |
A5806A/C | - | 3_prime_UTR_variant | - | - | - | 11317224 | Ohtsuki T , et al. (2001) | |
c.1010+23237C>T | G/A | intron_variant | - | - | - | 25656819 | Pan Y , et al. (2015) | |
c.1011-13916G>A | A/G | intron_variant | - | - | - | 25656819 | Pan Y , et al. (2015) | |
c.1125+15349G>A | A/G | intron_variant | - | - | - | 25656819 | Pan Y , et al. (2015) | |
T5072G | N/A | 3_prime_UTR_variant | - | - | - | 15083261 | Arnold PD , et al. (2004) | |
T5988C | N/A | 3_prime_UTR_variant | - | - | - | 15083261 | Arnold PD , et al. (2004) | |
c.15G>T | p.(=) | synonymous_variant | - | - | - | 11317224 | Ohtsuki T , et al. (2001) | |
c.366C>G | p.(=) | synonymous_variant | - | - | - | 11317224 | Ohtsuki T , et al. (2001) | |
c.1665C>T | p.(=) | synonymous_variant | - | - | - | 11317224 | Ohtsuki T , et al. (2001) | |
c.2664C>T | p.(=) | synonymous_variant | - | - | - | 11317224 | Ohtsuki T , et al. (2001) | |
c.4197T>C | p.(=) | synonymous_variant | - | - | - | 11317224 | Ohtsuki T , et al. (2001) | |
c.1806C>T;c.-248C>T | p.(=) | synonymous_variant | - | - | - | 25656819 | Pan Y , et al. (2015) | |
c.4197T>C;c.1983T>C | p.(=) | synonymous_variant | - | - | - | 25656819 | Pan Y , et al. (2015) | |
c.2011-17252A>C;c.-43-19199A>C | - | intron_variant | - | - | - | 25656819 | Pan Y , et al. (2015) | |
c.2010+8705T>C;c.-44+8705T>C | A/G | intron_variant | - | - | - | 25656819 | Pan Y , et al. (2015) | |
c.2010+10285C>A;c.-44+10285C>A | A/C | intron_variant | - | - | - | 25656819 | Pan Y , et al. (2015) | |
c.2010+16493A>G;c.-44+16493A>G | A/G | intron_variant | - | - | - | 25656819 | Pan Y , et al. (2015) | |
c.2011-14090A>G;c.-43-16037A>G | A/G | intron_variant | - | - | - | 25656819 | Pan Y , et al. (2015) |
SFARI Gene score
High Confidence
Score Delta: Score remained at 1
criteria met
See SFARI Gene'scoring criteriaWe considered a rigorous statistical comparison between cases and controls, yielding genome-wide statistical significance, with independent replication, to be the strongest possible evidence for a gene. These criteria were relaxed slightly for category 2.
4/1/2021
Score remained at 1
Description
Multiple studies have identified rare mutations in the GRIN2B gene with individuals with autism. Myers et al. (2011) found an excess of rare non-synonymous mutations in GRIN2B in both autism and schizophrenia cases (PMID 21383861). O'Roak et al., 2011 identified an ASD proband from a simplex family with a de novo splice-site variant in GRIN2B; three additional de novo loss-of-function variants in GRIN2B were identified in ASD probands from simplex families in two subsequent reports from O'Roak and colleagues in 2012 (PMIDs 22495309 and 23160955). Analysis of rare coding variation in 3,871 ASD cases and 9,937 ancestry-matched or paternal controls from the Autism Sequencing Consortium (ASC) in De Rubeis et al., 2014 identified GRIN2B as a gene meeting high statistical significance with a FDR 0.01, meaning that this gene had a 99% chance of being a true autism gene (PMID 25363760). This gene was identified in Iossifov et al. 2015 as a strong candidate to be an ASD risk gene based on a combination of de novo mutational evidence and the absence or very low frequency of mutations in controls (PMID 26401017). Platzer et al., 2017 evaluated 48 novel and 43 previously published individuals with de novo GRIN2B variants; 13 of the 48 novel individuals in this report were reported to have ASD as a phenotype (PMID 28377535). Yoo et al. (2012) showed association of GRIN2B markers in a Korean ASD cohort of 151 families (PMID 22326929); other studies have also found genetic association of the GRIN2B gene with schizophrenia (Ohtsuki et al., 2001) and obsessive-compulsive disorder (Arnold et al., 2004).
1/1/2021
Score remained at 1
Description
Multiple studies have identified rare mutations in the GRIN2B gene with individuals with autism. Myers et al. (2011) found an excess of rare non-synonymous mutations in GRIN2B in both autism and schizophrenia cases (PMID 21383861). O'Roak et al., 2011 identified an ASD proband from a simplex family with a de novo splice-site variant in GRIN2B; three additional de novo loss-of-function variants in GRIN2B were identified in ASD probands from simplex families in two subsequent reports from O'Roak and colleagues in 2012 (PMIDs 22495309 and 23160955). Analysis of rare coding variation in 3,871 ASD cases and 9,937 ancestry-matched or paternal controls from the Autism Sequencing Consortium (ASC) in De Rubeis et al., 2014 identified GRIN2B as a gene meeting high statistical significance with a FDR 0.01, meaning that this gene had a 99% chance of being a true autism gene (PMID 25363760). This gene was identified in Iossifov et al. 2015 as a strong candidate to be an ASD risk gene based on a combination of de novo mutational evidence and the absence or very low frequency of mutations in controls (PMID 26401017). Platzer et al., 2017 evaluated 48 novel and 43 previously published individuals with de novo GRIN2B variants; 13 of the 48 novel individuals in this report were reported to have ASD as a phenotype (PMID 28377535). Yoo et al. (2012) showed association of GRIN2B markers in a Korean ASD cohort of 151 families (PMID 22326929); other studies have also found genetic association of the GRIN2B gene with schizophrenia (Ohtsuki et al., 2001) and obsessive-compulsive disorder (Arnold et al., 2004).
10/1/2020
Score remained at 1
Description
Multiple studies have identified rare mutations in the GRIN2B gene with individuals with autism. Myers et al. (2011) found an excess of rare non-synonymous mutations in GRIN2B in both autism and schizophrenia cases (PMID 21383861). O'Roak et al., 2011 identified an ASD proband from a simplex family with a de novo splice-site variant in GRIN2B; three additional de novo loss-of-function variants in GRIN2B were identified in ASD probands from simplex families in two subsequent reports from O'Roak and colleagues in 2012 (PMIDs 22495309 and 23160955). Analysis of rare coding variation in 3,871 ASD cases and 9,937 ancestry-matched or paternal controls from the Autism Sequencing Consortium (ASC) in De Rubeis et al., 2014 identified GRIN2B as a gene meeting high statistical significance with a FDR 0.01, meaning that this gene had a 99% chance of being a true autism gene (PMID 25363760). This gene was identified in Iossifov et al. 2015 as a strong candidate to be an ASD risk gene based on a combination of de novo mutational evidence and the absence or very low frequency of mutations in controls (PMID 26401017). Platzer et al., 2017 evaluated 48 novel and 43 previously published individuals with de novo GRIN2B variants; 13 of the 48 novel individuals in this report were reported to have ASD as a phenotype (PMID 28377535). Yoo et al. (2012) showed association of GRIN2B markers in a Korean ASD cohort of 151 families (PMID 22326929); other studies have also found genetic association of the GRIN2B gene with schizophrenia (Ohtsuki et al., 2001) and obsessive-compulsive disorder (Arnold et al., 2004).
4/1/2020
Score remained at 1
Description
Multiple studies have identified rare mutations in the GRIN2B gene with individuals with autism. Myers et al. (2011) found an excess of rare non-synonymous mutations in GRIN2B in both autism and schizophrenia cases (PMID 21383861). O'Roak et al., 2011 identified an ASD proband from a simplex family with a de novo splice-site variant in GRIN2B; three additional de novo loss-of-function variants in GRIN2B were identified in ASD probands from simplex families in two subsequent reports from O'Roak and colleagues in 2012 (PMIDs 22495309 and 23160955). Analysis of rare coding variation in 3,871 ASD cases and 9,937 ancestry-matched or paternal controls from the Autism Sequencing Consortium (ASC) in De Rubeis et al., 2014 identified GRIN2B as a gene meeting high statistical significance with a FDR 0.01, meaning that this gene had a 99% chance of being a true autism gene (PMID 25363760). This gene was identified in Iossifov et al. 2015 as a strong candidate to be an ASD risk gene based on a combination of de novo mutational evidence and the absence or very low frequency of mutations in controls (PMID 26401017). Platzer et al., 2017 evaluated 48 novel and 43 previously published individuals with de novo GRIN2B variants; 13 of the 48 novel individuals in this report were reported to have ASD as a phenotype (PMID 28377535). Yoo et al. (2012) showed association of GRIN2B markers in a Korean ASD cohort of 151 families (PMID 22326929); other studies have also found genetic association of the GRIN2B gene with schizophrenia (Ohtsuki et al., 2001) and obsessive-compulsive disorder (Arnold et al., 2004).
1/1/2020
Score remained at 1
Description
Multiple studies have identified rare mutations in the GRIN2B gene with individuals with autism. Myers et al. (2011) found an excess of rare non-synonymous mutations in GRIN2B in both autism and schizophrenia cases (PMID 21383861). O'Roak et al., 2011 identified an ASD proband from a simplex family with a de novo splice-site variant in GRIN2B; three additional de novo loss-of-function variants in GRIN2B were identified in ASD probands from simplex families in two subsequent reports from O'Roak and colleagues in 2012 (PMIDs 22495309 and 23160955). Analysis of rare coding variation in 3,871 ASD cases and 9,937 ancestry-matched or paternal controls from the Autism Sequencing Consortium (ASC) in De Rubeis et al., 2014 identified GRIN2B as a gene meeting high statistical significance with a FDR 0.01, meaning that this gene had a 99% chance of being a true autism gene (PMID 25363760). This gene was identified in Iossifov et al. 2015 as a strong candidate to be an ASD risk gene based on a combination of de novo mutational evidence and the absence or very low frequency of mutations in controls (PMID 26401017). Platzer et al., 2017 evaluated 48 novel and 43 previously published individuals with de novo GRIN2B variants; 13 of the 48 novel individuals in this report were reported to have ASD as a phenotype (PMID 28377535). Yoo et al. (2012) showed association of GRIN2B markers in a Korean ASD cohort of 151 families (PMID 22326929); other studies have also found genetic association of the GRIN2B gene with schizophrenia (Ohtsuki et al., 2001) and obsessive-compulsive disorder (Arnold et al., 2004).
10/1/2019
Score remained at 1
New Scoring Scheme
Description
Multiple studies have identified rare mutations in the GRIN2B gene with individuals with autism. Myers et al. (2011) found an excess of rare non-synonymous mutations in GRIN2B in both autism and schizophrenia cases (PMID 21383861). O'Roak et al., 2011 identified an ASD proband from a simplex family with a de novo splice-site variant in GRIN2B; three additional de novo loss-of-function variants in GRIN2B were identified in ASD probands from simplex families in two subsequent reports from O'Roak and colleagues in 2012 (PMIDs 22495309 and 23160955). Analysis of rare coding variation in 3,871 ASD cases and 9,937 ancestry-matched or paternal controls from the Autism Sequencing Consortium (ASC) in De Rubeis et al., 2014 identified GRIN2B as a gene meeting high statistical significance with a FDR 0.01, meaning that this gene had a 99% chance of being a true autism gene (PMID 25363760). This gene was identified in Iossifov et al. 2015 as a strong candidate to be an ASD risk gene based on a combination of de novo mutational evidence and the absence or very low frequency of mutations in controls (PMID 26401017). Platzer et al., 2017 evaluated 48 novel and 43 previously published individuals with de novo GRIN2B variants; 13 of the 48 novel individuals in this report were reported to have ASD as a phenotype (PMID 28377535). Yoo et al. (2012) showed association of GRIN2B markers in a Korean ASD cohort of 151 families (PMID 22326929); other studies have also found genetic association of the GRIN2B gene with schizophrenia (Ohtsuki et al., 2001) and obsessive-compulsive disorder (Arnold et al., 2004).
7/1/2019
Score remained at 1
Description
Multiple studies have identified rare mutations in the GRIN2B gene with individuals with autism. Myers et al. (2011) found an excess of rare non-synonymous mutations in GRIN2B in both autism and schizophrenia cases (PMID 21383861). O'Roak et al., 2011 identified an ASD proband from a simplex family with a de novo splice-site variant in GRIN2B; three additional de novo loss-of-function variants in GRIN2B were identified in ASD probands from simplex families in two subsequent reports from O'Roak and colleagues in 2012 (PMIDs 22495309 and 23160955). Analysis of rare coding variation in 3,871 ASD cases and 9,937 ancestry-matched or paternal controls from the Autism Sequencing Consortium (ASC) in De Rubeis et al., 2014 identified GRIN2B as a gene meeting high statistical significance with a FDR 0.01, meaning that this gene had a 99% chance of being a true autism gene (PMID 25363760). This gene was identified in Iossifov et al. 2015 as a strong candidate to be an ASD risk gene based on a combination of de novo mutational evidence and the absence or very low frequency of mutations in controls (PMID 26401017). Platzer et al., 2017 evaluated 48 novel and 43 previously published individuals with de novo GRIN2B variants; 13 of the 48 novel individuals in this report were reported to have ASD as a phenotype (PMID 28377535). Yoo et al. (2012) showed association of GRIN2B markers in a Korean ASD cohort of 151 families (PMID 22326929); other studies have also found genetic association of the GRIN2B gene with schizophrenia (Ohtsuki et al., 2001) and obsessive-compulsive disorder (Arnold et al., 2004).
Reports Added
[Characterization of intellectual disability and autism comorbidity through gene panel sequencing.2019] [Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder.2019] [De novo GRIN variants in NMDA receptor M2 channel pore-forming loop are associated with neurological diseases.2019]7/1/2018
Score remained at 1
Description
Multiple studies have identified rare mutations in the GRIN2B gene with individuals with autism. Myers et al. (2011) found an excess of rare non-synonymous mutations in GRIN2B in both autism and schizophrenia cases (PMID 21383861). O'Roak et al., 2011 identified an ASD proband from a simplex family with a de novo splice-site variant in GRIN2B; three additional de novo loss-of-function variants in GRIN2B were identified in ASD probands from simplex families in two subsequent reports from O'Roak and colleagues in 2012 (PMIDs 22495309 and 23160955). Analysis of rare coding variation in 3,871 ASD cases and 9,937 ancestry-matched or paternal controls from the Autism Sequencing Consortium (ASC) in De Rubeis et al., 2014 identified GRIN2B as a gene meeting high statistical significance with a FDR 0.01, meaning that this gene had a 99% chance of being a true autism gene (PMID 25363760). This gene was identified in Iossifov et al. 2015 as a strong candidate to be an ASD risk gene based on a combination of de novo mutational evidence and the absence or very low frequency of mutations in controls (PMID 26401017). Platzer et al., 2017 evaluated 48 novel and 43 previously published individuals with de novo GRIN2B variants; 13 of the 48 novel individuals in this report were reported to have ASD as a phenotype (PMID 28377535). Yoo et al. (2012) showed association of GRIN2B markers in a Korean ASD cohort of 151 families (PMID 22326929); other studies have also found genetic association of the GRIN2B gene with schizophrenia (Ohtsuki et al., 2001) and obsessive-compulsive disorder (Arnold et al., 2004).
Reports Added
[Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA recep...2014] [Disruption of GRIN2B Impairs Differentiation in Human Neurons.2018] [Atypical Rett Syndrome and Intractable Epilepsy With Novel GRIN2B Mutation.2018]7/1/2017
Score remained at 1
Description
Multiple studies have identified rare mutations in the GRIN2B gene with individuals with autism. Myers et al. (2011) found an excess of rare non-synonymous mutations in GRIN2B in both autism and schizophrenia cases (PMID 21383861). O'Roak et al., 2011 identified an ASD proband from a simplex family with a de novo splice-site variant in GRIN2B; three additional de novo loss-of-function variants in GRIN2B were identified in ASD probands from simplex families in two subsequent reports from O'Roak and colleagues in 2012 (PMIDs 22495309 and 23160955). Analysis of rare coding variation in 3,871 ASD cases and 9,937 ancestry-matched or paternal controls from the Autism Sequencing Consortium (ASC) in De Rubeis et al., 2014 identified GRIN2B as a gene meeting high statistical significance with a FDR ? 0.01, meaning that this gene had a ? 99% chance of being a true autism gene (PMID 25363760). This gene was identified in Iossifov et al. 2015 as a strong candidate to be an ASD risk gene based on a combination of de novo mutational evidence and the absence or very low frequency of mutations in controls (PMID 26401017). Platzer et al., 2017 evaluated 48 novel and 43 previously published individuals with de novo GRIN2B variants; 13 of the 48 novel individuals in this report were reported to have ASD as a phenotype (PMID 28377535). Yoo et al. (2012) showed association of GRIN2B markers in a Korean ASD cohort of 151 families (PMID 22326929); other studies have also found genetic association of the GRIN2B gene with schizophrenia (Ohtsuki et al., 2001) and obsessive-compulsive disorder (Arnold et al., 2004).
4/1/2017
Score remained at 1
Description
Studies have identified rare mutations in the GRIN2B gene with autism. In particular, O'Roak et al. (2011) found a single individual with a 3' splice mutation of GRIN2B, Myers et al. (2011) found an excess of rare non-synonymous mutations in GRIN2B in both autism and schizophrenia. As well, Yoo et al. (2012) showed association of GRIN2B markers in a Korean cohort of 151 families. Studies have also found genetic association of the GRIN2B gene with obsessive-compulsive disorder (Arnold et al., 2004) as well as with schizophrenia (Ohtsuki et al., 2001). PMID 22495309 and 23160955 reported 3 de novo LoF in GRIN2B. Analysis of rare coding variation in 3,871 ASD cases and 9,937 ancestry-matched or paternal controls from the Autism Sequencing Consortium (ASC) identified GRIN2B as a gene meeting high statistical significance with a FDR ?0.01, meaning that this gene had a ?99% chance of being a true autism gene (PMID 25363760). This gene was identified in Iossifov et al. 2015 as a strong candidate to be an ASD risk gene based on a combination of de novo mutational evidence and the absence or very low frequency of mutations in controls (PMID 26401017). Platzer et al., 2017 evaluated 48 novel and 43 previously published individuals with de novo GRIN2B variants; 13 of the 48 novel individuals in this report were reported to have ASD as a phenotype.
Reports Added
[Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.2011] [Family based association of GRIN2A and GRIN2B with Korean autism spectrum disorders.2012] [Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.2012] [Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.2012] [A candidate gene association study further corroborates involvement of contactin genes in autism.2014] [Synaptic, transcriptional and chromatin genes disrupted in autism.2014] [Association of genetic variants of GRIN2B with autism.2015] [A population genetic approach to mapping neurological disorder genes using deep resequencing.2011] [Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia.2011] [Excess of rare novel loss-of-function variants in synaptic genes in schizophrenia and autism spectrum disorders.2013] [Large-scale discovery of novel genetic causes of developmental disorders.2014] [Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy.2011] [De novo mutations in epileptic encephalopathies.2013] [GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy.2013] [Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.2010] [Diagnostic exome sequencing in persons with severe intellectual disability.2012] [Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene.2013] [Interstitial 12p13.1 deletion involving GRIN2B in three patients with intellectual disability.2013] [Association of a glutamate (NMDA) subunit receptor gene (GRIN2B) with obsessive-compulsive disorder: a preliminary study.2004] [Mutation analysis of the NMDAR2B (GRIN2B) gene in schizophrenia.2001] [Direct measure of the de novo mutation rate in autism and schizophrenia cohorts.2010] [Strain dependent effects of prenatal stress on gene expression in the rat hippocampus.2011] [Neuronal excitation upregulates Tbr1, a high-confidence risk gene of autism, mediating Grin2b expression in the adult brain.2014] [Gene Mutation Analysis in 253 Chinese Children with Unexplained Epilepsy and Intellectual/Developmental Disabilities.2015] [Low load for disruptive mutations in autism genes and their biased transmission.2015] [Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability2016] [Mutation screening of GRIN2B in schizophrenia and autism spectrum disorder in a Japanese population.2016] [De novo genic mutations among a Chinese autism spectrum disorder cohort.2016] [Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains.2016] [Clinical exome sequencing: results from 2819 samples reflecting 1000 families.2016] [The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.2016] [Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights t...2016] [Molecular Mechanism of Disease-Associated Mutations in the Pre-M1 Helix of NMDA Receptors and Potential Rescue Pharmacology.2017] [Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.2017] [A Rare Variant Identified Within the GluN2B C-Terminus in a Patient with Autism Affects NMDA Receptor Surface Expression and Spine Density.2017] [A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology.2017] [GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.2017] [Recurrent de novo mutations implicate novel genes underlying simplex autism risk.2014] [De novo mutations in moderate or severe intellectual disability.2014] [Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.2017] [Genomic diagnosis for children with intellectual disability and/or developmental delay.2017]1/1/2017
Score remained at 1
Description
Studies have identified rare mutations in the GRIN2B gene with autism. In particular, O'Roak et al. (2011) found a single individual with a 3' splice mutation of GRIN2B, Myers et al. (2011) found an excess of rare non-synonymous mutations in GRIN2B in both autism and schizophrenia. As well, Yoo et al. (2012) showed association of GRIN2B markers in a Korean cohort of 151 families. Studies have also found genetic association of the GRIN2B gene with obsessive-compulsive disorder (Arnold et al., 2004) as well as with schizophrenia (Ohtsuki et al., 2001). PMID 22495309 and 23160955 reported 3 de novo LoF in GRIN2B. Analysis of rare coding variation in 3,871 ASD cases and 9,937 ancestry-matched or paternal controls from the Autism Sequencing Consortium (ASC) identified GRIN2B as a gene meeting high statistical significance with a FDR ?0.01, meaning that this gene had a ?99% chance of being a true autism gene (PMID 25363760). This gene was identified in Iossifov et al. 2015 as a strong candidate to be an ASD risk gene based on a combination of de novo mutational evidence and the absence or very low frequency of mutations in controls (PMID 26401017).
Reports Added
[Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights t...2016] [Molecular Mechanism of Disease-Associated Mutations in the Pre-M1 Helix of NMDA Receptors and Potential Rescue Pharmacology.2017] [Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.2017]10/1/2016
Score remained at 1
Description
Studies have identified rare mutations in the GRIN2B gene with autism. In particular, O'Roak et al. (2011) found a single individual with a 3' splice mutation of GRIN2B, Myers et al. (2011) found an excess of rare non-synonymous mutations in GRIN2B in both autism and schizophrenia. As well, Yoo et al. (2012) showed association of GRIN2B markers in a Korean cohort of 151 families. Studies have also found genetic association of the GRIN2B gene with obsessive-compulsive disorder (Arnold et al., 2004) as well as with schizophrenia (Ohtsuki et al., 2001). PMID 22495309 and 23160955 reported 3 de novo LoF in GRIN2B. Analysis of rare coding variation in 3,871 ASD cases and 9,937 ancestry-matched or paternal controls from the Autism Sequencing Consortium (ASC) identified GRIN2B as a gene meeting high statistical significance with a FDR ?0.01, meaning that this gene had a ?99% chance of being a true autism gene (PMID 25363760). This gene was identified in Iossifov et al. 2015 as a strong candidate to be an ASD risk gene based on a combination of de novo mutational evidence and the absence or very low frequency of mutations in controls (PMID 26401017).
Reports Added
[Mutation screening of GRIN2B in schizophrenia and autism spectrum disorder in a Japanese population.2016] [De novo genic mutations among a Chinese autism spectrum disorder cohort.2016] [Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains.2016] [Clinical exome sequencing: results from 2819 samples reflecting 1000 families.2016] [The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.2016]7/1/2016
Score remained at 1
Description
Studies have identified rare mutations in the GRIN2B gene with autism. In particular, O'Roak et al. (2011) found a single individual with a 3' splice mutation of GRIN2B, Myers et al. (2011) found an excess of rare non-synonymous mutations in GRIN2B in both autism and schizophrenia. As well, Yoo et al. (2012) showed association of GRIN2B markers in a Korean cohort of 151 families. Studies have also found genetic association of the GRIN2B gene with obsessive-compulsive disorder (Arnold et al., 2004) as well as with schizophrenia (Ohtsuki et al., 2001). PMID 22495309 and 23160955 reported 3 de novo LoF in GRIN2B. Analysis of rare coding variation in 3,871 ASD cases and 9,937 ancestry-matched or paternal controls from the Autism Sequencing Consortium (ASC) identified GRIN2B as a gene meeting high statistical significance with a FDR ?0.01, meaning that this gene had a ?99% chance of being a true autism gene (PMID 25363760). This gene was identified in Iossifov et al. 2015 as a strong candidate to be an ASD risk gene based on a combination of de novo mutational evidence and the absence or very low frequency of mutations in controls (PMID 26401017).
1/1/2016
Score remained at 1
Description
Studies have identified rare mutations in the GRIN2B gene with autism. In particular, O'Roak et al. (2011) found a single individual with a 3' splice mutation of GRIN2B, Myers et al. (2011) found an excess of rare non-synonymous mutations in GRIN2B in both autism and schizophrenia. As well, Yoo et al. (2012) showed association of GRIN2B markers in a Korean cohort of 151 families. Studies have also found genetic association of the GRIN2B gene with obsessive-compulsive disorder (Arnold et al., 2004) as well as with schizophrenia (Ohtsuki et al., 2001). PMID 22495309 and 23160955 reported 3 de novo LoF in GRIN2B. Analysis of rare coding variation in 3,871 ASD cases and 9,937 ancestry-matched or paternal controls from the Autism Sequencing Consortium (ASC) identified GRIN2B as a gene meeting high statistical significance with a FDR ?0.01, meaning that this gene had a ?99% chance of being a true autism gene (PMID 25363760). This gene was identified in Iossifov et al. 2015 as a strong candidate to be an ASD risk gene based on a combination of de novo mutational evidence and the absence or very low frequency of mutations in controls (PMID 26401017).
Reports Added
[Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.2011] [Family based association of GRIN2A and GRIN2B with Korean autism spectrum disorders.2012] [Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.2012] [Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.2012] [A candidate gene association study further corroborates involvement of contactin genes in autism.2014] [Synaptic, transcriptional and chromatin genes disrupted in autism.2014] [Association of genetic variants of GRIN2B with autism.2015] [A population genetic approach to mapping neurological disorder genes using deep resequencing.2011] [Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia.2011] [Excess of rare novel loss-of-function variants in synaptic genes in schizophrenia and autism spectrum disorders.2013] [Large-scale discovery of novel genetic causes of developmental disorders.2014] [Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy.2011] [De novo mutations in epileptic encephalopathies.2013] [GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy.2013] [Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.2010] [Diagnostic exome sequencing in persons with severe intellectual disability.2012] [Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene.2013] [Interstitial 12p13.1 deletion involving GRIN2B in three patients with intellectual disability.2013] [Association of a glutamate (NMDA) subunit receptor gene (GRIN2B) with obsessive-compulsive disorder: a preliminary study.2004] [Mutation analysis of the NMDAR2B (GRIN2B) gene in schizophrenia.2001] [Direct measure of the de novo mutation rate in autism and schizophrenia cohorts.2010] [Strain dependent effects of prenatal stress on gene expression in the rat hippocampus.2011] [Neuronal excitation upregulates Tbr1, a high-confidence risk gene of autism, mediating Grin2b expression in the adult brain.2014] [Gene Mutation Analysis in 253 Chinese Children with Unexplained Epilepsy and Intellectual/Developmental Disabilities.2015] [Low load for disruptive mutations in autism genes and their biased transmission.2015]1/1/2015
Score remained at 1
Description
Studies have identified rare mutations in the GRIN2B gene with autism. In particular, O'Roak et al. (2011) found a single individual with a 3' splice mutation of GRIN2B, Myers et al. (2011) found an excess of rare non-synonymous mutations in GRIN2B in both autism and schizophrenia. As well, Yoo et al. (2012) showed association of GRIN2B markers in a Korean cohort of 151 families. Studies have also found genetic association of the GRIN2B gene with obsessive-compulsive disorder (Arnold et al., 2004) as well as with schizophrenia (Ohtsuki et al., 2001). PMID 22495309 and 23160955 reported 3 de novo LGD in GRIN2B. Analysis of rare coding variation in 3,871 ASD cases and 9,937 ancestry-matched or paternal controls from the Autism Sequencing Consortium (ASC) identified GRIN2B as a gene meeting high statistical significance with a FDR ?0.01, meaning that this gene had a ?99% chance of being a true autism gene (PMID 25363760).
10/1/2014
Decreased from 2 to 1
Description
Studies have identified rare mutations in the GRIN2B gene with autism. In particular, O'Roak et al. (2011) found a single individual with a 3' splice mutation of GRIN2B, Myers et al. (2011) found an excess of rare non-synonymous mutations in GRIN2B in both autism and schizophrenia. As well, Yoo et al. (2012) showed association of GRIN2B markers in a Korean cohort of 151 families. Studies have also found genetic association of the GRIN2B gene with obsessive-compulsive disorder (Arnold et al., 2004) as well as with schizophrenia (Ohtsuki et al., 2001). PMID 22495309 and 23160955 reported 3 de novo LGD in GRIN2B. Analysis of rare coding variation in 3,871 ASD cases and 9,937 ancestry-matched or paternal controls from the Autism Sequencing Consortium (ASC) identified GRIN2B as a gene meeting high statistical significance with a FDR ?0.01, meaning that this gene had a ?99% chance of being a true autism gene (PMID 25363760).
Reports Added
[Neuronal excitation upregulates Tbr1, a high-confidence risk gene of autism, mediating Grin2b expression in the adult brain.2014] [A candidate gene association study further corroborates involvement of contactin genes in autism.2014] [Synaptic, transcriptional and chromatin genes disrupted in autism.2014]7/1/2014
Increased from No data to 2
Description
Studies have identified rare mutations in the GRIN2B gene with autism. In particular, O'Roak et al. (2011) found a single individual with a 3' splice mutation of GRIN2B, Myers et al. (2011) found an excess of rare non-synonymous mutations in GRIN2B in both autism and schizophrenia. As well, Yoo et al. (2012) showed association of GRIN2B markers in a Korean cohort of 151 families. Studies have also found genetic association of the GRIN2B gene with obsessive-compulsive disorder (Arnold et al., 2004) as well as with schizophrenia (Ohtsuki et al., 2001). PMID 22495309 and 23160955 reported 3 de novo LGD in GRIN2B.
4/1/2014
Increased from No data to 2
Description
Studies have identified rare mutations in the GRIN2B gene with autism. In particular, O'Roak et al. (2011) found a single individual with a 3' splice mutation of GRIN2B, Myers et al. (2011) found an excess of rare non-synonymous mutations in GRIN2B in both autism and schizophrenia. As well, Yoo et al. (2012) showed association of GRIN2B markers in a Korean cohort of 151 families. Studies have also found genetic association of the GRIN2B gene with obsessive-compulsive disorder (Arnold et al., 2004) as well as with schizophrenia (Ohtsuki et al., 2001). PMID 22495309 and 23160955 reported 3 de novo LGD in GRIN2B.
Krishnan Probability Score
Score 0.57893761774073
Ranking 599/25841 scored genes
[Show Scoring Methodology]
ExAC Score
Score 0.99999489576279
Ranking 400/18225 scored genes
[Show Scoring Methodology]
Iossifov Probability Score
Score 0.998
Ranking 8/239 scored genes
[Show Scoring Methodology]
Sanders TADA Score
Score 0.00020278814528964
Ranking 15/18665 scored genes
[Show Scoring Methodology]
Larsen Cumulative Evidence Score
Score 72
Ranking 18/461 scored genes
[Show Scoring Methodology]
Zhang D Score
Score 0.40050735967668
Ranking 1458/20870 scored genes
[Show Scoring Methodology]
External PIN Data
Interactome
- Protein Binding
- DNA Binding
- RNA Binding
- Protein Modification
- Direct Regulation
- ASD-Linked Genes
Interaction Table
Interactor Symbol | Interactor Name | Interactor Organism | Interactor Type | Entrez ID | Uniprot ID |
---|---|---|---|---|---|
GRIN3A | glutamate receptor, ionotropic, N-methyl-D-aspartate 3A | Human | Protein Binding | 116443 | Q8TCU5 |
Il16 | interleukin 16 | Mouse | Protein Binding | 16170 | O54824 |
Il1r1 | interleukin 1 receptor, type I | Rat | Protein Binding | 25663 | Q05KR1 |
MIR223 | microRNA 223 | Human | RNA Binding | 407008 | N/A |
PLAT | plasminogen activator, tissue | Human | Protein Modification | 5327 | P00750 |
Trpv1 | transient receptor potential cation channel, subfamily V, member 1 | Rat | Protein Binding | 83810 | O35433 |