WDR27

Chr 6

WD repeat domain 27

NCBI Gene: 253769 ENSG00000184465 UniProt: A2RRH5 OMIM: 620936

This gene encodes a protein with multiple WD repeats that forms scaffolds for protein-protein interactions and plays key roles in cell signaling. Mutations cause autosomal recessive developmental and epileptic encephalopathy with severe intellectual disability, seizures, and brain malformations including corpus callosum abnormalities. The gene is extremely intolerant to loss-of-function variants, indicating it is essential for normal development.

OMIM ResearchSummary from RefSeq

This gene encodes a protein with multiple WD repeats. Proteins with these repeats may form scaffolds for protein-protein interaction and play key roles in cell signalling. Alternative splicing results in multiple transcript variants, but the full-length structure of some of these variants cannot be determined. [provided by RefSeq, Nov 2015]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.89

LOEUF

Mechanism· predicted