WDFY4
Homo sapiens
Gene Name: WDFY family member 4
Aliases: C10orf64
Chromosome No: 10
Chromosome Band: 10q11.23
Genetic Category: Rare single gene variant-
Aliases: C10orf64
Chromosome No: 10
Chromosome Band: 10q11.23
Genetic Category: Rare single gene variant-
Summary Statistics:
ASD Reports: 11
Recent Reports: 1
Annotated variants: 16
Associated CNVs: 5
Evidence score: 3
ASD Reports: 11
Recent Reports: 1
Annotated variants: 16
Associated CNVs: 5
Evidence score: 3
| Associated Disorders: |
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Relevance to Autism
De novo missense variants in the WDFY4 gene have been identified in four probands with ASD (Iossifov et al., 2014; Yuen et al., 2016; Yuen et al., 2017) and one proband with an unspecified developmental disorder (Deciphering Developmental Disorders Study 2017). An integrated meta-analysis of de novo mutation data from a combined dataset of 10,927 individuals with neurodevelopmental disorders identified WDFY4 as a gene with an excess of missense variants (false discovery rata < 5%, count >1); WDFY4 was similarly identified as a gene with an excess of de novo missense variants (false discovery rata < 5%, count >1) following analysis of 5,624 cases with a primary diagnosis of ASD (Coe et al., 2018).
Molecular 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
A recurrent PJA1 variant in trigonocephaly and neurodevelopmental disorders
ASD, DD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Support
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
ASD
Recent Recommendation
Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity.