Human Gene Module / Chromosome 10 / WDFY4

WDFY4WDFY family member 4

Score
3
Suggestive Evidence Criteria 3.1
Autism Reports / Total Reports
3 / 5
Rare Variants / Common Variants
5 / 0
Aliases
WDFY4, C10orf64
Associated Syndromes
-
Genetic Category
Rare Single Gene Mutation
Chromosome Band
10q11.23
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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