WDR64

Chr 1

WD repeat domain 64

NCBI Gene: 128025 ENSG00000162843 UniProt: B1ANS9 OMIM: 621432

The WDR64 protein is a component of the ciliary transition zone that regulates ciliary assembly and function. Mutations cause Jeune asphyxiating thoracic dystrophy and short-rib polydactyly syndrome, both autosomal recessive ciliopathies characterized by skeletal dysplasia, respiratory complications, and variable involvement of kidneys and other organs. These conditions typically present in the neonatal period with life-threatening thoracic restriction and may include polydactyly and renal cystic disease.

OMIM Research

OMIM ResearchGenerating clinical summary…

Clinical Summary— WDR64

📋

ClinVar Variants

147 VUS of 158 total submissions

Explore recent and relevant literature in Research Assistant →

Some data sources returned errors (1)

gnomad: TimeoutError: The operation was aborted due to timeout

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

158 submitted variants in ClinVar

ClinVar

Classification Summary

VUS147

Likely Benign3

147

VUS

Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Non-coding	Total
Pathogenic	0	0	0
Likely Pathogenic	0	0	0
VUS	109	38	147
Likely Benign	3	0	3
Benign	0	0	0
Total	112	38	150

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

67 pathogenic / likely-pathogenic (of 93) ClinVar copy-number / structural variants overlap WDR64 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →