AHDC1

Chr 1AD

AT-hook DNA binding motif containing 1

Also known as: MRD25, XIGIS

NCBI Gene: 27245ENSG00000126705UniProt: Q5TGY3OMIM: 615790

This gene encodes a protein containing two AT-hooks, which likely function in DNA binding. Mutations in this gene were found in individuals with Xia-Gibbs syndrome. [provided by RefSeq, Jun 2014]

GeneReviewsOMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Xia-Gibbs syndromeMIM #615829
AD

Clinical highlights

Gene-disease validity (ClinGen)
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome · ADDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.
1
Active trials
11
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.08
LOEUF· LoF intol.
LOF
Mechanism· G2P
📖
GeneReview available — AHDC1
Authoritative clinical overview · Recommended first read
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.08LOEUF
pLI 1.000
Z-score 5.78
OE 0.00 (0.00–0.08)
Highly constrained

Among the most LoF-intolerant genes (~top 3%)

Missense Constraint?
2.86Z-score
OE missense 0.75 (0.70–0.79)
764 obs / 1021.1 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.00 (0.00–0.08)
0≤0.351.4
Missense OE?0.75 (0.70–0.79)
0≤0.61.4
Synonymous OE?1.03
0≤1.21.6
LoF obs/exp: 0 / 38.9Missense obs/exp: 764 / 1021.1Syn Z: -0.57

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

AHDC1 · protein map & ClinVar variants

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

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