KIAA0825

Chr 5AR

KIAA0825

Also known as: C5orf36, PAPA10

NCBI Gene: 285600ENSG00000185261UniProt: Q8IV33

Primary Disease Associations & Inheritance

Polydactyly, postaxial, type A10MIM #618498
AR
125
ClinVar variants
33
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— KIAA0825
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
33 Pathogenic / Likely Pathogenic· 70 VUS of 125 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.53LOEUF
pLI 0.000
Z-score 0.12
OE 0.96 (0.63–1.53)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.59Z-score
OE missense 0.87 (0.75–1.00)
136 obs / 157.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.96 (0.63–1.53)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.87 (0.75–1.00)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.68
0≤1.21.6
LoF obs/exp: 13 / 13.5Missense obs/exp: 136 / 157.0Syn Z: 1.88

ClinVar Variant Classifications

125 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic26
Likely Pathogenic7
VUS70
Likely Benign6
Benign16
26
Pathogenic
7
Likely Pathogenic
70
VUS
6
Likely Benign
16
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
2
1
23
0
26
Likely Pathogenic
1
2
4
0
7
VUS
2
51
17
0
70
Likely Benign
0
5
1
0
6
Benign
0
5
2
9
16
Total564479125

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

View in ClinVar →

Protein Context — Lollipop Plot

KIAA0825 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
KIAA0825 GENE; KIAA0825
MIM #617266 · *

Polydactyly, postaxial, type A10

MIM #618498

Molecular basis of disorder known

Autosomal recessive
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Identification of GLI1 and KIAA0825 Variants in Two Families with Postaxial Polydactyly.
Ahmad S et al.·Genes (Basel)
2023
Genetic overview of postaxial polydactyly: Updated classification.
Ahmad Z et al.·Clin Genet
2023Review
Prenatal Detection of Novel Compound Heterozygous Splice Site Variants of the KIAA0825 Gene in a Fetus with Postaxial Polydactyly Type A.
Yao Y et al.·Genes (Basel)
2022
Novel KIAA0825 Variants Underlie Nonsyndromic Postaxial Polydactyly.
Abdullah et al.·Genes (Basel)
2025
Identification of a novel biallelic missense variant in the KIAA0825 underlies postaxial polydactyly type A.
Hayat A et al.·Genomics
2020
Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly.
Ullah I et al.·Hum Genet
2019
Estrogen-related receptor gamma implicated in a phenotype including hearing loss and mild developmental delay.
Schilit SL et al.·Eur J Hum Genet
2016
A novel homozygous variant in the GLI1 underlies postaxial polydactyly in a large consanguineous family with intra familial variable phenotypes.
Bakar A et al.·Eur J Med Genet
2022
A novel homozygous FAM92A gene (CIBAR1) variant further confirms its association with non-syndromic postaxial polydactyly type A9 (PAPA9).
Umair M et al.·Clin Genet
2024Case report
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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