DNAH10Dynein, axonemal, heavy chain 10
Autism Reports / Total Reports
8 / 10Rare Variants / Common Variants
100 / 0Aliases
DNAH10, hCG_1811879Associated Syndromes
Tourette syndromeChromosome Band
12q24.31Associated Disorders
-Relevance to Autism
A de novo missense variant in this gene has been identified in a simplex ASD proband (Iossifov et al., 2012). Furthermore, an inherited LoF variant in this gene was observed in both affected siblings from a quartet ASD family (Yuen et al., 2015). This gene was also included in a set of genes strongly enriched for those likely to affect risk (FDR < 0.30) (De Rubeis, et al., 2014).
Molecular Function
Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. The axonemal dyneins, found in cilia and flagella, are components of the outer and inner dynein arms attached to the peripheral microtubule doublets. DNAH10 is an inner arm dynein heavy chain
External Links
SFARI Genomic Platforms
Reports related to DNAH10 (10 Reports)
# | Type | Title | Author, Year | Autism Report | Associated Disorders |
---|---|---|---|---|---|
1 | Primary | De novo gene disruptions in children on the autistic spectrum | Iossifov I , et al. (2012) | Yes | - |
2 | Recent Recommendation | Synaptic, transcriptional and chromatin genes disrupted in autism | De Rubeis S , et al. (2014) | Yes | - |
3 | Recent Recommendation | Whole-genome sequencing of quartet families with autism spectrum disorder | Yuen RK , et al. (2015) | Yes | - |
4 | Support | Excess of rare, inherited truncating mutations in autism | Krumm N , et al. (2015) | Yes | - |
5 | Positive Association | De Novo Coding Variants Are Strongly Associated with Tourette Disorder | Willsey AJ , et al. (2017) | No | - |
6 | Support | Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks | Ruzzo EK , et al. (2019) | Yes | - |
7 | Support | De Novo Damaging DNA Coding Mutations Are Associated With Obsessive-Compulsive Disorder and Overlap With Tourette's Disorder and Autism | Cappi C , et al. (2019) | No | - |
8 | Support | - | Woodbury-Smith M et al. (2022) | Yes | - |
9 | Support | - | Zhou X et al. (2022) | Yes | - |
10 | Support | - | Cirnigliaro M et al. (2023) | Yes | - |
Rare Variants (100)
Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
---|---|---|---|---|---|---|---|---|
c.2648T>C | p.Phe883Ser | missense_variant | De novo | - | - | 35982159 | Zhou X et al. (2022) | |
GCT>G | - | frameshift_variant | Unknown | - | Unknown | 25363760 | De Rubeis S , et al. (2014) | |
c.10286C>T | p.Ala3429Val | missense_variant | De novo | - | - | 35982159 | Zhou X et al. (2022) | |
c.12008A>G | p.Lys4003Arg | missense_variant | De novo | - | - | 35982159 | Zhou X et al. (2022) | |
c.6109C>T | p.Arg2037Ter | stop_gained | De novo | - | Simplex | 31771860 | Cappi C , et al. (2019) | |
c.817-1G>A | - | splice_site_variant | Unknown | - | Unknown | 25363760 | De Rubeis S , et al. (2014) | |
c.2131A>C | p.Met711Leu | missense_variant | De novo | - | Simplex | 35982159 | Zhou X et al. (2022) | |
c.6109C>T | p.Arg2037Ter | stop_gained | De novo | - | Simplex | 28472652 | Willsey AJ , et al. (2017) | |
c.11152+1G>C | - | splice_site_variant | Unknown | - | Unknown | 25363760 | De Rubeis S , et al. (2014) | |
c.2480A>T | p.His827Leu | missense_variant | De novo | - | Simplex | 25961944 | Krumm N , et al. (2015) | |
c.3076C>T | p.Gln1026Ter | stop_gained | Unknown | - | Unknown | 25363760 | De Rubeis S , et al. (2014) | |
TAA>T | - | frameshift_variant | Familial | Maternal | Simplex | 25363760 | De Rubeis S , et al. (2014) | |
c.7466C>T | p.Ser2489Phe | missense_variant | De novo | - | Multiplex | 35982159 | Zhou X et al. (2022) | |
c.3599G>A | p.Arg1200His | missense_variant | De novo | - | Simplex | 25961944 | Krumm N , et al. (2015) | |
c.10777G>T | p.Glu3593Ter | stop_gained | Unknown | - | Unknown | 25363760 | De Rubeis S , et al. (2014) | |
c.12718G>T | p.Glu4240Ter | stop_gained | Unknown | - | Unknown | 25363760 | De Rubeis S , et al. (2014) | |
c.8946G>A | p.Pro2982%3D | synonymous_variant | De novo | - | Multiplex | 35982159 | Zhou X et al. (2022) | |
c.9202C>A | p.Leu3068Met | missense_variant | De novo | - | Multiplex | 25621899 | Yuen RK , et al. (2015) | |
c.11887C>T | p.Arg3963Cys | missense_variant | De novo | - | Multiplex | 25621899 | Yuen RK , et al. (2015) | |
c.8654C>T | p.Ala2885Val | missense_variant | De novo | - | Simplex | 22542183 | Iossifov I , et al. (2012) | |
c.1036C>A | p.Arg346Ser | missense_variant | Unknown | - | Unknown | 25363760 | De Rubeis S , et al. (2014) | |
c.1120G>A | p.Val374Met | missense_variant | Unknown | - | Unknown | 25363760 | De Rubeis S , et al. (2014) | |
c.1172T>C | p.Met391Thr | missense_variant | Unknown | - | Unknown | 25363760 | De Rubeis S , et al. (2014) | |
c.1183G>A | p.Ala395Thr | missense_variant | Unknown | - | Unknown | 25363760 | De Rubeis S , et al. (2014) | |
c.1730C>A | p.Ser577Tyr | missense_variant | Unknown | - | Unknown | 25363760 | De Rubeis S , et al. (2014) | |
c.1742G>T | p.Arg581Leu | missense_variant | Unknown | - | Unknown | 25363760 | De Rubeis S , et al. (2014) | |
c.2003C>T | p.Pro668Leu | missense_variant | Unknown | - | Unknown | 25363760 | De Rubeis S , et al. (2014) | |
c.2996T>C | p.Leu999Pro | missense_variant | Unknown | - | Unknown | 25363760 | De Rubeis S , et al. (2014) | |
c.12282C>T | p.Ile4094= | missense_variant | Unknown | - | Unknown | 25363760 | De Rubeis S , et al. (2014) | |
c.5219_5224del | p.Gly1740_Glu1741del | inframe_deletion | De novo | - | - | 35982159 | Zhou X et al. (2022) | |
c.3992C>T | p.Ser1331Leu | missense_variant | Unknown | - | Unknown | 25363760 | De Rubeis S , et al. (2014) | |
c.4268G>A | p.Arg1423Gln | missense_variant | Unknown | - | Unknown | 25363760 | De Rubeis S , et al. (2014) | |
c.4294G>A | p.Glu1432Lys | missense_variant | Unknown | - | Unknown | 25363760 | De Rubeis S , et al. (2014) | |
c.5612T>C | p.Phe1871Ser | missense_variant | Unknown | - | Unknown | 25363760 | De Rubeis S , et al. (2014) | |
c.6068C>T | p.Ser2023Phe | missense_variant | Unknown | - | Unknown | 25363760 | De Rubeis S , et al. (2014) | |
c.6160G>A | p.Gly2054Ser | missense_variant | Unknown | - | Unknown | 25363760 | De Rubeis S , et al. (2014) | |
c.6486C>G | p.Asp2162Glu | missense_variant | Unknown | - | Unknown | 25363760 | De Rubeis S , et al. (2014) | |
c.6851A>G | p.Tyr2284Cys | missense_variant | Unknown | - | Unknown | 25363760 | De Rubeis S , et al. (2014) | |
c.7657C>T | p.Arg2553Cys | missense_variant | Unknown | - | Unknown | 25363760 | De Rubeis S , et al. (2014) | |
c.8230C>T | p.Arg2744Cys | missense_variant | Unknown | - | Unknown | 25363760 | De Rubeis S , et al. (2014) | |
c.8368C>A | p.Arg2790Ser | missense_variant | Unknown | - | Unknown | 25363760 | De Rubeis S , et al. (2014) | |
c.8525T>A | p.Leu2842Gln | missense_variant | Unknown | - | Unknown | 25363760 | De Rubeis S , et al. (2014) | |
c.8758G>A | p.Val2920Met | missense_variant | Unknown | - | Unknown | 25363760 | De Rubeis S , et al. (2014) | |
c.8834G>A | p.Arg2945Lys | missense_variant | Unknown | - | Unknown | 25363760 | De Rubeis S , et al. (2014) | |
c.9037C>T | p.Arg3013Cys | missense_variant | Unknown | - | Unknown | 25363760 | De Rubeis S , et al. (2014) | |
c.9308C>T | p.Ala3103Val | missense_variant | Unknown | - | Unknown | 25363760 | De Rubeis S , et al. (2014) | |
c.11295C>G | p.Gly3765%3D | synonymous_variant | Unknown | - | - | 35205252 | Woodbury-Smith M et al. (2022) | |
c.12780T>C | p.Phe4260%3D | synonymous_variant | Unknown | - | - | 35205252 | Woodbury-Smith M et al. (2022) | |
c.8280+1G>T | - | splice_site_variant | Familial | Paternal | Multiplex | 31398340 | Ruzzo EK , et al. (2019) | |
c.10174C>G | p.Pro3392Ala | missense_variant | Unknown | - | Unknown | 25363760 | De Rubeis S , et al. (2014) | |
c.10228T>C | p.Ser3410Pro | missense_variant | Unknown | - | Unknown | 25363760 | De Rubeis S , et al. (2014) | |
c.10282C>T | p.Arg3428Trp | missense_variant | Unknown | - | Unknown | 25363760 | De Rubeis S , et al. (2014) | |
c.10537G>A | p.Asp3513Asn | missense_variant | Unknown | - | Unknown | 25363760 | De Rubeis S , et al. (2014) | |
c.11086C>G | p.Leu3696Val | missense_variant | Unknown | - | Unknown | 25363760 | De Rubeis S , et al. (2014) | |
c.11962G>A | p.Glu3988Lys | missense_variant | Unknown | - | Unknown | 25363760 | De Rubeis S , et al. (2014) | |
c.12211C>T | p.Arg4071Trp | missense_variant | Unknown | - | Unknown | 25363760 | De Rubeis S , et al. (2014) | |
c.12459C>G | p.Asn4153Lys | missense_variant | Unknown | - | Unknown | 25363760 | De Rubeis S , et al. (2014) | |
c.13045C>T | p.Pro4349Ser | missense_variant | Unknown | - | Unknown | 25363760 | De Rubeis S , et al. (2014) | |
c.817-1G>A | - | splice_site_variant | Familial | Paternal | Simplex | 25363760 | De Rubeis S , et al. (2014) | |
c.5662C>T | p.Arg1888Ter | stop_gained | Familial | Maternal | Multiplex | 25621899 | Yuen RK , et al. (2015) | |
c.1975G>T | p.Gly659Ter | stop_gained | Familial | Maternal | Multiplex | 31398340 | Ruzzo EK , et al. (2019) | |
c.1135C>T | p.Arg379Ter | stop_gained | Familial | Paternal | Simplex | 25363760 | De Rubeis S , et al. (2014) | |
c.12718G>T | p.Glu4240Ter | stop_gained | Familial | Paternal | Multiplex | 31398340 | Ruzzo EK , et al. (2019) | |
c.12205C>T | p.Gln4069Ter | stop_gained | Familial | Paternal | Simplex | 25363760 | De Rubeis S , et al. (2014) | |
c.12520C>T | p.Arg4174Ter | stop_gained | Familial | Maternal | Simplex | 25363760 | De Rubeis S , et al. (2014) | |
c.12718G>T | p.Glu4240Ter | stop_gained | Familial | Maternal | Simplex | 25363760 | De Rubeis S , et al. (2014) | |
c.2215C>T | p.Arg739Ter | stop_gained | Familial | Maternal | Multiplex | 25363760 | De Rubeis S , et al. (2014) | |
c.2779+1G>A | - | splice_site_variant | Familial | Maternal | Multiplex | 37506195 | Cirnigliaro M et al. (2023) | |
c.295G>A | p.Val99Met | missense_variant | Familial | Maternal | Simplex | 25363760 | De Rubeis S , et al. (2014) | |
c.875C>T | p.Ala292Val | missense_variant | Familial | Paternal | Simplex | 25363760 | De Rubeis S , et al. (2014) | |
c.3430C>T | p.Gln1144Ter | stop_gained | Familial | Maternal | Multiplex | 37506195 | Cirnigliaro M et al. (2023) | |
c.1120G>A | p.Val374Met | missense_variant | Familial | Maternal | Simplex | 25363760 | De Rubeis S , et al. (2014) | |
c.1120G>A | p.Val374Met | missense_variant | Familial | Paternal | Simplex | 25363760 | De Rubeis S , et al. (2014) | |
c.1153G>A | p.Glu385Lys | missense_variant | Familial | Paternal | Simplex | 25363760 | De Rubeis S , et al. (2014) | |
c.1330A>T | p.Ile444Leu | missense_variant | Familial | Maternal | Simplex | 25363760 | De Rubeis S , et al. (2014) | |
c.1730C>A | p.Ser577Tyr | missense_variant | Familial | Maternal | Simplex | 25363760 | De Rubeis S , et al. (2014) | |
c.2428G>A | p.Val810Met | missense_variant | Familial | Maternal | Simplex | 25363760 | De Rubeis S , et al. (2014) | |
c.12874C>T | p.Arg4292Ter | stop_gained | Familial | Maternal | Multiplex | 37506195 | Cirnigliaro M et al. (2023) | |
c.3404C>A | p.Thr1135Asn | missense_variant | Familial | Maternal | Simplex | 25363760 | De Rubeis S , et al. (2014) | |
c.5530G>A | p.Asp1844Asn | missense_variant | Familial | Paternal | Simplex | 25363760 | De Rubeis S , et al. (2014) | |
c.5780G>A | p.Arg1927His | missense_variant | Familial | Maternal | Simplex | 25363760 | De Rubeis S , et al. (2014) | |
c.6145G>A | p.Val2049Ile | missense_variant | Familial | Paternal | Simplex | 25363760 | De Rubeis S , et al. (2014) | |
c.6652C>T | p.Arg2218Cys | missense_variant | Familial | Paternal | Simplex | 25363760 | De Rubeis S , et al. (2014) | |
c.6751G>T | p.Asp2251Tyr | missense_variant | Familial | Maternal | Simplex | 25363760 | De Rubeis S , et al. (2014) | |
c.7459C>T | p.Arg2487Cys | missense_variant | Familial | Maternal | Simplex | 25363760 | De Rubeis S , et al. (2014) | |
c.7576A>G | p.Met2526Val | missense_variant | Familial | Paternal | Simplex | 25363760 | De Rubeis S , et al. (2014) | |
c.7664A>T | p.Lys2555Met | missense_variant | Familial | Paternal | Simplex | 25363760 | De Rubeis S , et al. (2014) | |
c.7939C>G | p.Pro2647Ala | missense_variant | Familial | Paternal | Simplex | 25363760 | De Rubeis S , et al. (2014) | |
c.8230C>T | p.Arg2744Cys | missense_variant | Familial | Paternal | Simplex | 25363760 | De Rubeis S , et al. (2014) | |
c.11713C>T | p.Arg3905Cys | missense_variant | Familial | Maternal | Simplex | 25363760 | De Rubeis S , et al. (2014) | |
c.12091G>A | p.Val4031Met | missense_variant | Familial | Maternal | Simplex | 25363760 | De Rubeis S , et al. (2014) | |
c.12136T>C | p.Tyr4046His | missense_variant | Familial | Maternal | Simplex | 25363760 | De Rubeis S , et al. (2014) | |
c.12977C>T | p.Ser4326Leu | missense_variant | Familial | Paternal | Simplex | 25363760 | De Rubeis S , et al. (2014) | |
c.7102C>T | p.Arg2368Cys | missense_variant | Familial | Paternal | Multiplex | 25363760 | De Rubeis S , et al. (2014) | |
c.10013T>A | p.Leu3338Gln | missense_variant | Familial | Paternal | Multiplex | 25363760 | De Rubeis S , et al. (2014) | |
c.10174C>G | p.Pro3392Ala | missense_variant | Familial | Paternal | Multiplex | 25363760 | De Rubeis S , et al. (2014) | |
c.1493dup | p.Asp498GlufsTer6 | frameshift_variant | Familial | Paternal | Simplex | 25363760 | De Rubeis S , et al. (2014) | |
c.13317dup | p.Met4440HisfsTer8 | frameshift_variant | Familial | Paternal | Simplex | 25363760 | De Rubeis S , et al. (2014) | |
c.6165del | p.Tyr2056ThrfsTer11 | frameshift_variant | Familial | Paternal | Multiplex | 37506195 | Cirnigliaro M et al. (2023) | |
c.11042dup | p.Val3682GlyfsTer101 | frameshift_variant | Familial | Maternal | Multiplex | 37506195 | Cirnigliaro M et al. (2023) |
Common Variants
No common variants reported.
SFARI Gene score
Strong Candidate
A de novo missense variant that was predicted to be damaging was identified in the DNAH10 gene in a simplex ASD proband in Iossifov et al., 2012. Furthermore, an inherited LoF variant in this gene was observed in both affected siblings from a quartet ASD family in Yuen et al., 2015. This gene was also included in a set of genes strongly enriched for those likely to affect ASD risk (FDR < 0.30) (De Rubeis, et al., 2014).
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
A de novo missense variant that was predicted to be damaging was identified in the DNAH10 gene in a simplex ASD proband in Iossifov et al., 2012. Furthermore, an inherited LoF variant in this gene was observed in both affected siblings from a quartet ASD family in Yuen et al., 2015. This gene was also included in a set of genes strongly enriched for those likely to affect ASD risk (FDR < 0.30) (De Rubeis, et al., 2014).
1/1/2020
Decreased from 3 to 3
Description
A de novo missense variant that was predicted to be damaging was identified in the DNAH10 gene in a simplex ASD proband in Iossifov et al., 2012. Furthermore, an inherited LoF variant in this gene was observed in both affected siblings from a quartet ASD family in Yuen et al., 2015. This gene was also included in a set of genes strongly enriched for those likely to affect ASD risk (FDR < 0.30) (De Rubeis, et al., 2014).
10/1/2019
Decreased from 4 to 3
New Scoring Scheme
Description
A de novo missense variant that was predicted to be damaging was identified in the DNAH10 gene in a simplex ASD proband in Iossifov et al., 2012. Furthermore, an inherited LoF variant in this gene was observed in both affected siblings from a quartet ASD family in Yuen et al., 2015. This gene was also included in a set of genes strongly enriched for those likely to affect ASD risk (FDR < 0.30) (De Rubeis, et al., 2014).
Reports Added
[New Scoring Scheme]7/1/2019
Decreased from 4 to 4
Description
A de novo missense variant that was predicted to be damaging was identified in the DNAH10 gene in a simplex ASD proband in Iossifov et al., 2012. Furthermore, an inherited LoF variant in this gene was observed in both affected siblings from a quartet ASD family in Yuen et al., 2015. This gene was also included in a set of genes strongly enriched for those likely to affect ASD risk (FDR < 0.30) (De Rubeis, et al., 2014).
10/1/2017
Increased from to 4
Description
A de novo missense variant that was predicted to be damaging was identified in the DNAH10 gene in a simplex ASD proband in Iossifov et al., 2012. Furthermore, an inherited LoF variant in this gene was observed in both affected siblings from a quartet ASD family in Yuen et al., 2015. This gene was also included in a set of genes strongly enriched for those likely to affect ASD risk (FDR < 0.30) (De Rubeis, et al., 2014).
Krishnan Probability Score
Score 0.48754067675295
Ranking 6950/25841 scored genes
[Show Scoring Methodology]
ExAC Score
Score 4.1403153457439E-37
Ranking 18194/18225 scored genes
[Show Scoring Methodology]
Sanders TADA Score
Score 0.49089613862582
Ranking 429/18665 scored genes
[Show Scoring Methodology]