NEO1Neogenin 1
Autism Reports / Total Reports
4 / 4Rare Variants / Common Variants
11 / 0Aliases
NEO1, IGDCC2, NGN, NTN1R2Associated Syndromes
-Chromosome Band
15q24.1Associated Disorders
-Relevance to Autism
Biallelic variants in the NEO1 gene were identified in two ASD patients of Han Chinese descent (Siu et al., 2015).
Molecular Function
Multi-functional cell surface receptor for members of the BMP, netrin, and repulsive guidance molecule (RGM) families that regulates cell adhesion in many diverse developmental processes, including neural tube and mammary gland formation, myogenesis and angiogenesis. Netrin-Neogenin interactions result in a chemoattractive axon guidance response and cell-cell adhesion.
External Links
SFARI Genomic Platforms
Reports related to NEO1 (4 Reports)
# | Type | Title | Author, Year | Autism Report | Associated Disorders |
---|---|---|---|---|---|
1 | Primary | Unmasking a novel disease gene NEO1 associated with autism spectrum disorders by a hemizygous deletion on chromosome 15 and a functional polymorphism | Siu WK , et al. (2015) | Yes | - |
2 | Support | - | Zhou X et al. (2022) | Yes | - |
3 | Support | - | Cirnigliaro M et al. (2023) | Yes | - |
4 | Support | - | Afif Ben-Mahmoud et al. (2024) | Yes | DD, ID |
Rare Variants (11)
Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
---|---|---|---|---|---|---|---|---|
- | - | copy_number_loss | Unknown | Not maternal | Simplex | 26518331 | Siu WK , et al. (2015) | |
c.3910C>T | p.Arg1304Ter | stop_gained | De novo | - | Simplex | 35982159 | Zhou X et al. (2022) | |
c.1135dup | p.Asp379GlyfsTer7 | frameshift_variant | De novo | - | - | 35982159 | Zhou X et al. (2022) | |
c.88_94dup | p.Ala32GlyfsTer37 | frameshift_variant | De novo | - | - | 35982159 | Zhou X et al. (2022) | |
c.2204-14_2204-2dup | - | intron_variant | Familial | Maternal | Simplex | 26518331 | Siu WK , et al. (2015) | |
c.302G>A | p.Arg101His | missense_variant | Familial | Maternal | Simplex | 26518331 | Siu WK , et al. (2015) | |
c.2204-14_2204-2dup | - | intron_variant | Unknown | Not maternal | Simplex | 26518331 | Siu WK , et al. (2015) | |
c.3388C>T | p.Arg1130Cys | missense_variant | Familial | Maternal | Simplex | 26518331 | Siu WK , et al. (2015) | |
c.3688A>G | p.Arg1230Gly | missense_variant | De novo | - | Simplex | 39519104 | Afif Ben-Mahmoud et al. (2024) | |
c.3388C>T | p.Arg1130Cys | missense_variant | Unknown | Not maternal | Simplex | 26518331 | Siu WK , et al. (2015) | |
c.3403C>T | p.Gln1135Ter | stop_gained | Familial | Maternal | Multiplex | 37506195 | Cirnigliaro M et al. (2023) |
Common Variants
No common variants reported.
SFARI Gene score
Strong Candidate


Biallelic variants in the NEO1 gene were identified in two ASD patients of Han Chinese descent (Siu et al., 2015).
Score Delta: Score remained at 2
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.
4/1/2022

Decreased from 3 to 2
Description
Biallelic variants in the NEO1 gene were identified in two ASD patients of Han Chinese descent (Siu et al., 2015).
10/1/2019

Decreased from 4 to 3
New Scoring Scheme
Description
Biallelic variants in the NEO1 gene were identified in two ASD patients of Han Chinese descent (Siu et al., 2015).
Reports Added
[New Scoring Scheme]10/1/2015

Increased from to 4
Description
Biallelic variants in the NEO1 gene were identified in two ASD patients of Han Chinese descent (Siu et al., 2015).
Krishnan Probability Score
Score 0.49571815192683
Ranking 2831/25841 scored genes
[Show Scoring Methodology]
ExAC Score
Score 0.99985462014738
Ranking 735/18225 scored genes
[Show Scoring Methodology]
Sanders TADA Score
Score 0.94601465496199
Ranking 16700/18665 scored genes
[Show Scoring Methodology]
Zhang D Score
Score 0.22876620063948
Ranking 3797/20870 scored genes
[Show Scoring Methodology]