WDR1

Chr 4AR

WD repeat domain 1

Also known as: AIP1, HEL-S-52, NORI-1, PFITS

NCBI Gene: 9948 ENSG00000071127 UniProt: O75083 OMIM: 604734

WDR1 encodes a protein that induces disassembly of actin filaments and is essential for cellular processes including cytokinesis, cell migration, and maintenance of cytoskeletal organization. Mutations cause periodic fever, immunodeficiency, and thrombocytopenia syndrome with autosomal recessive inheritance. The gene is highly constrained against loss-of-function variants, indicating that complete loss of protein function is likely incompatible with normal development.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a protein containing 9 WD repeats. WD repeats are approximately 30- to 40-amino acid domains containing several conserved residues, mostly including a trp-asp at the C-terminal end. WD domains are involved in protein-protein interactions. The encoded protein may help induce the disassembly of actin filaments. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Periodic fever, immunodeficiency, and thrombocytopenia syndromeMIM #150550

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.22

LOEUF· LoF intol.

LOF

Mechanism· predicted