rs8133179

This variant is located in the WDR4 gene.

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ClinVar annotation

Benign★★★☆

3 submitters1 publication

not provided; Microcephaly, growth deficiency, seizures, and brain malformations; Galloway-Mowat syndrome 6

About WDR4

This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene is excluded as a candidate for a form of nonsyndromic deafness (DFNB10), but is still a candidate for other disorders mapped to 21q22.3 as well as for the development of Down syndrome phenotypes. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2012]

View all WDR4 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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