WDR36

Chr 5

WD repeat domain 36

Also known as: GLC1G, TA-WDRP, TAWDRP, UTP21

NCBI Gene: 134430 ENSG00000134987 UniProt: Q8NI36

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. Mutations in this gene have been associated with adult-onset primary open-angle glaucoma (POAG). [provided by RefSeq, Jul 2008]

Research

ResearchGenerating clinical summary…

LOEUF 0.47

Clinical Summary— WDR36

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Gene-Disease Validity (ClinGen)

obsolete glaucoma 1, open angle, G · ADDisputed

Disputed — evidence questions this relationship

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Population Constraint (gnomAD)

Constrained for loss-of-function variants (OE-LoF 0.31) despite low pLI — interpret in context.

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ClinVar Variants

185 VUS of 356 total submissions

Explore recent and relevant literature in Research Assistant →

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Moderate LoF intolerance

LoF Constraint?

0.47LOEUF

pLI 0.001

Z-score 4.64

OE 0.31 (0.21–0.47)

Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?

-1.80Z-score

OE missense 1.23 (1.15–1.31)

616 obs / 502.7 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.31 (0.21–0.47)

0≤0.351.4

Missense OE?1.23 (1.15–1.31)

0≤0.61.4

Synonymous OE?1.26

0≤1.21.6

LoF obs/exp: 16 / 52.1Missense obs/exp: 616 / 502.7Syn Z: -2.69

ClinVar Variant Classifications

356 submitted variants in ClinVar

ClinVar

Classification Summary

VUS185

Likely Benign72

Benign71

Conflicting3

185

VUS

Likely Benign

Benign

Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	0	0	0	0	0
Likely Pathogenic	0	0	0	0	0
VUS	2	167	16	0	185
Likely Benign	0	9	52	11	72
Benign	0	4	58	9	71
Conflicting	—				3
Total	2	180	126	20	331

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

View in ClinVar →

25 pathogenic / likely-pathogenic (of 39) ClinVar copy-number / structural variants overlap WDR36 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →