TBC1D31
Homo sapiens
Gene Name: TBC1 domain family, member 31
Aliases: Gm85, WDR67
Chromosome No: 8
Chromosome Band: 8q24.13
Genetic Category: Rare single gene variant
Aliases: Gm85, WDR67
Chromosome No: 8
Chromosome Band: 8q24.13
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 7
Recent Reports: 0
Annotated variants: 7
Associated CNVs: 6
Evidence score: 3
ASD Reports: 7
Recent Reports: 0
Annotated variants: 7
Associated CNVs: 6
Evidence score: 3
| Associated Disorders: |
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Relevance to Autism
Two de novo missense variants in the TBC1D31 gene have been identified in ASD probands from the Simons Simplex Collection, with no de novo events in this gene observed in 1,786 unaffected siblings (P=7.29 x 10-3) (Iossifov et al., 2014; Krumm et al., 2015).
Molecular Function
This gene encodes a protein of unknown function.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Support
Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder.
ASD
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN727R004
frameshift_variant
c.2493_2494del
p.Met832ValfsTer3
Familial
Maternal
Multiplex
GEN727R007
frameshift_variant
c.2183del
p.Gln728ArgfsTer24
Familial
Paternal
Multiplex
Common
No Common Variants Available