WDR62

Chr 19

WD repeat domain 62

Also known as: C19orf14, MCPH2

NCBI Gene: 284403 ENSG00000075702 UniProt: O43379

The WDR62 protein functions in cerebral cortical development and is localized to the nucleus. Autosomal recessive mutations cause primary microcephaly with or without cortical malformations and cognitive disability. The pathogenic mechanism involves disrupted cortical development during embryogenesis.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt

This gene is proposed to play a role in cerebral cortical development. Mutations in this gene have been associated with microencephaly, cortical malformations, and cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2011]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMicrocephaly 2, primary, autosomal recessive, with or without cortical malformations

Clinical highlights

Gene-disease validity (ClinGen)

microcephaly 2, primary, autosomal recessive, with or without cortical malformations · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.86

LOEUF

LOF

Mechanism· G2P

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GeneReview available — WDR62