WDR35

Chr 2

WD repeat domain 35

Also known as: CED2, CFAP118, FAP118, IFT121, IFTA1, SRTD7

NCBI Gene: 57539ENSG00000118965UniProt: Q9P2L0

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. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. Two patients with Sensenbrenner syndrome / cranioectodermal dysplasia (CED) were identified with mutations in this gene, consistent with a possible ciliary function.[provided by RefSeq, Sep 2010]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCranioectodermal dysplasia 2
UniProtShort-rib thoracic dysplasia 7 with or without polydactyly
UniProtShort-rib thoracic dysplasia 7/20 with polydactyly, digenic

Clinical highlights

Gene-disease validity (ClinGen)
cranioectodermal dysplasia 2 · ARDefinitivesufficient evidence for diagnostic panels2 gene-disease associations curated in total
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.
0
Active trials
5
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.81
LOEUF
LOF
Mechanism· G2P
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GeneReview available — WDR35
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.81LOEUF
pLI 0.000
Z-score 2.87
OE 0.64 (0.51–0.81)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.60Z-score
OE missense 0.93 (0.87–1.00)
588 obs / 630.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.64 (0.51–0.81)
0≤0.351.4
Missense OE?0.93 (0.87–1.00)
0≤0.61.4
Synonymous OE?0.98
0≤1.21.6
LoF obs/exp: 47 / 73.5Missense obs/exp: 588 / 630.3Syn Z: 0.24

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

WDR35 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients