WDR26

Chr 1

WD repeat domain 26

Also known as: CDW2, GID7, MIP2, SKDEAS

NCBI Gene: 80232 ENSG00000162923 UniProt: Q9H7D7

The protein is a WD repeat-containing protein that facilitates formation of multiprotein complexes involved in cell cycle progression, signal transduction, apoptosis, and gene regulation. Loss-of-function mutations cause Skraban-Deardorff syndrome through an autosomal dominant inheritance pattern. The gene is highly intolerant to loss-of-function variation, consistent with haploinsufficiency as the disease mechanism.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

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. Two transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtSkraban-Deardorff syndrome

Clinical highlights

Gene-disease validity (ClinGen)

Skraban-Deardorff syndrome · ADDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.09

LOEUF· LoF intol.

LOF

Mechanism· G2P

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GeneReview available — WDR26