DNAH10
Homo sapiens
Gene Name: Dynein, axonemal, heavy chain 10
Aliases: hCG_1811879
Chromosome No: 12
Chromosome Band: 12q24.31
Genetic Category: Rare single gene variant
Aliases: hCG_1811879
Chromosome No: 12
Chromosome Band: 12q24.31
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 10
Recent Reports: 2
Annotated variants: 101
Associated CNVs: 6
Evidence score: 4
ASD Reports: 10
Recent Reports: 2
Annotated variants: 101
Associated CNVs: 6
Evidence score: 4
Associated Disorders: |
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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
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Positive Association
De Novo Coding Variants Are Strongly Associated with Tourette Disorder.
Tourette syndrome
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
Support
De Novo Damaging DNA Coding Mutations Are Associated With Obsessive-Compulsive Disorder and Overlap With Tourette's Disorder and Autism.
OCD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Recent Recommendation
Whole-genome sequencing of quartet families with autism spectrum disorder.
ASD
Recent Recommendation
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN703R005
frameshift_variant
c.1493dup
p.Asp498GlufsTer6
Familial
Paternal
Simplex
GEN703R007
frameshift_variant
c.13317dup
p.Met4440HisfsTer8
Familial
Paternal
Simplex
GEN703R015
missense_variant
c.1120G>A
p.Val374Met
Familial
Paternal
Simplex
GEN703R016
missense_variant
c.1120G>A
p.Val374Met
Familial
Maternal
Simplex
GEN703R017
missense_variant
c.1120G>A
p.Val374Met
Familial
Maternal
Simplex
GEN703R018
missense_variant
c.1153G>A
p.Glu385Lys
Familial
Paternal
Simplex
GEN703R019
missense_variant
c.1730C>A
p.Ser577Tyr
Familial
Maternal
Simplex
GEN703R020
missense_variant
c.2428G>A
p.Val810Met
Familial
Maternal
Simplex
GEN703R021
missense_variant
c.3404C>A
p.Thr1135Asn
Familial
Maternal
Simplex
GEN703R022
missense_variant
c.5530G>A
p.Asp1844Asn
Familial
Paternal
Simplex
GEN703R023
missense_variant
c.5780G>A
p.Arg1927His
Familial
Maternal
Simplex
GEN703R024
missense_variant
c.6145G>A
p.Val2049Ile
Familial
Paternal
Simplex
GEN703R025
missense_variant
c.10013T>A
p.Leu3338Gln
Familial
Paternal
Multiplex
GEN703R026
missense_variant
c.12091G>A
p.Val4031Met
Familial
Maternal
Simplex
GEN703R027
missense_variant
c.12136T>C
p.Tyr4046His
Familial
Maternal
Simplex
GEN703R028
missense_variant
c.7576A>G
p.Met2526Val
Familial
Paternal
Simplex
GEN703R029
missense_variant
c.7939C>G
p.Pro2647Ala
Familial
Paternal
Simplex
GEN703R030
missense_variant
c.10174C>G
p.Pro3392Ala
Familial
Paternal
Multiplex
GEN703R031
missense_variant
c.875C>T
p.Ala292Val
Familial
Paternal
Simplex
GEN703R032
missense_variant
c.1330A>T
p.Ile444Leu
Familial
Maternal
Simplex
GEN703R033
missense_variant
c.6652C>T
p.Arg2218Cys
Familial
Paternal
Simplex
GEN703R034
missense_variant
c.6751G>T
p.Asp2251Tyr
Familial
Maternal
Simplex
GEN703R035
missense_variant
c.7102C>T
p.Arg2368Cys
Familial
Paternal
Multiplex
GEN703R036
missense_variant
c.7459C>T
p.Arg2487Cys
Familial
Maternal
Simplex
GEN703R037
missense_variant
c.7664A>T
p.Lys2555Met
Familial
Paternal
Simplex
GEN703R038
missense_variant
c.8230C>T
p.Arg2744Cys
Familial
Paternal
Simplex
GEN703R039
missense_variant
c.11713C>T
p.Arg3905Cys
Familial
Maternal
Simplex
GEN703R040
missense_variant
c.12977C>T
p.Ser4326Leu
Familial
Paternal
Simplex
GEN703R098
frameshift_variant
c.6165del
p.Tyr2056ThrfsTer11
Familial
Paternal
Multiplex
GEN703R099
frameshift_variant
c.11042dup
p.Val3682GlyfsTer101
Familial
Maternal
Multiplex
GEN703R100
stop_gained
c.12874C>T
p.Arg4292Ter
Familial
Maternal
Multiplex
Common
No Common Variants Available