Human Gene Module / Chromosome 10 / WDFY4

WDFY4WDFY family member 4

Suggestive Evidence Criteria 3.1
Autism Reports / Total Reports
3 / 5
Rare Variants / Common Variants
5 / 0
WDFY4, C10orf64
Associated Syndromes
Genetic Category
Rare Single Gene Mutation
Chromosome Band
Associated Disorders
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

Reports related to WDFY4 (5 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Primary The contribution of de novo coding mutations to autism spectrum disorder. Iossifov I , et al. (2014) Yes -
2 Support Genome-wide characteristics of de novo mutations in autism. Yuen RK , et al. (2016) Yes -
3 Support Prevalence and architecture of de novo mutations in developmental disorders. Deciphering Developmental Disorders Study (2017) No -
4 Support Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder. C Yuen RK , et al. (2017) Yes -
5 Recent Recommendation Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity. Coe BP , et al. (2018) No -
Rare Variants   (5)
Status Allele Change Residue Change Variant Type Inheritance Pattern Parental Transmission Family Type PubMed ID Author, Year
c.8519C>T p.Pro2840Leu missense_variant De novo - Simplex 27525107 Yuen RK , et al. (2016)
c.908C>T p.Ser303Leu missense_variant De novo - Multiplex 28263302 C Yuen RK , et al. (2017)
c.5387C>A p.Ala1796Asp missense_variant De novo - Simplex 25363768 Iossifov I , et al. (2014)
c.7546C>A p.Leu2516Met missense_variant De novo - Simplex 25363768 Iossifov I , et al. (2014)
c.7414C>T p.Arg2472Trp missense_variant De novo - - 28135719 Deciphering Developmental Disorders Study (2017)
Common Variants  

No common variants reported.

CNVs associated with WDFY4(1 CNVs)
10q11.23 11 Deletion-Duplication 19  /  37
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