GATAD1

Chr 7AR

GATA zinc finger domain containing 1

Also known as: CMD2B, ODAG, RG083M05.2

This gene encodes a component of chromatin complexes that binds to trimethylated histone H3 at lysine 4 (H3K4me3), a histone modification associated with active gene transcription. Mutations cause autosomal recessive dilated cardiomyopathy, primarily affecting cardiac function. The inheritance pattern is autosomal recessive.

GeneReviewsOMIMResearchSummary from RefSeq, OMIM, UniProt
LOFmechanismARLOEUF 0.651 OMIM phenotype
Clinical SummaryGATAD1
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Gene-Disease Validity (ClinGen)
dilated cardiomyopathy 2B · ARLimited

Limited evidence — not for standalone diagnostic reporting

Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.21) despite low pLI — interpret in context.
📖
GeneReview available — GATAD1
Authoritative clinical overview · Recommended first read
Open GeneReview ↗

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
0.65LOEUF
pLI 0.430
Z-score 2.28
OE 0.21 (0.080.65)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
1.41Z-score
OE missense 0.62 (0.510.76)
68 obs / 109.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.21 (0.080.65)
00.351.4
Missense OE0.62 (0.510.76)
00.61.4
Synonymous OE1.15
01.21.6
LoF obs/exp: 2 / 9.6Missense obs/exp: 68 / 109.7Syn Z: -0.74
Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗
limitedGATAD1-related dilated cardiomyopathyOTHERAR

Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.

DN
0.4090th %ile
GOF
0.3293th %ile
LOF
0.73top 10%

The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

GATAD1 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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