WDR93

Chr 15

WD repeat domain 93

Also known as: C1d-87, CFAP297, FAP297

NCBI Gene: 56964 ENSG00000140527 UniProt: Q6P2C0 OMIM: 619891

The protein is predicted to be involved in electron transport as part of respiratory chain complex I in mitochondria. Mutations cause autosomal recessive neurodevelopmental disorders with intellectual disability and seizures. The gene shows minimal constraint against loss-of-function variants, consistent with recessive inheritance patterns.

OMIM ResearchSummary from RefSeq

Predicted to be involved in electron transport chain. Predicted to be part of respiratory chain complex I. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

LOEUF 1.07

Clinical Summary— WDR93

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

1 unique Pathogenic / Likely Pathogenic· 87 VUS of 108 total submissions

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.07LOEUF

pLI 0.000

Z-score 1.22

OE 0.79 (0.59–1.07)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.21Z-score

OE missense 0.97 (0.89–1.06)

360 obs / 371.5 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.79 (0.59–1.07)

0≤0.351.4

Missense OE?0.97 (0.89–1.06)

0≤0.61.4

Synonymous OE?0.91

0≤1.21.6

LoF obs/exp: 30 / 38.1Missense obs/exp: 360 / 371.5Syn Z: 0.82

ClinVar Variant Classifications

108 submitted variants in ClinVar

ClinVar

Classification Summary

Likely Pathogenic1

VUS87

Likely Benign8

Likely Pathogenic

VUS

Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	0	0	0	0
Likely Pathogenic	1	0	0	1
VUS	86	0	1	87
Likely Benign	6	1	1	8
Benign	0	0	0	0
Total	93	1	2	96

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

View in ClinVar →

38 pathogenic / likely-pathogenic (of 47) ClinVar copy-number / structural variants overlap WDR93 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →