GATAD1

Chr 7

GATA zinc finger domain containing 1

Also known as: CMD2B, ODAG, RG083M05.2

NCBI Gene: 57798 ENSG00000157259 UniProt: Q8WUU5

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.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene contains a zinc finger at the N-terminus, and is thought to bind to a histone modification site that regulates gene expression. Mutations in this gene have been associated with autosomal recessive dilated cardiomyopathy. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2012]

GeneReviews ResearchGenerating clinical summary…

LOFmechanismLOEUF 0.65

Clinical Summary— GATAD1

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Gene-Disease Validity (ClinGen)

dilated cardiomyopathy 2B · ARLimited

Limited evidence — not for standalone diagnostic reporting

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Population Constraint (gnomAD)

Constrained for loss-of-function variants (OE-LoF 0.21) despite low pLI — interpret in context.

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ClinVar Variants

123 unique Pathogenic / Likely Pathogenic· 347 VUS of 895 total submissions

Explore recent and relevant literature in Research Assistant →

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GeneReview available — GATAD1

Authoritative clinical overview · Recommended first read

Open GeneReview ↗

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.65LOEUF

pLI 0.430

Z-score 2.28

OE 0.21 (0.08–0.65)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

1.41Z-score

OE missense 0.62 (0.51–0.76)

68 obs / 109.7 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.21 (0.08–0.65)

0≤0.351.4

Missense OE?0.62 (0.51–0.76)

0≤0.61.4

Synonymous OE?1.15

0≤1.21.6

LoF obs/exp: 2 / 9.6Missense obs/exp: 68 / 109.7Syn Z: -0.74

Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗

limitedGATAD1-related dilated cardiomyopathyOTHERAR

This gene — mechanism propensity

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

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. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.

ClinVar Variant Classifications

895 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic35

Likely Pathogenic88

VUS347

Likely Benign357

Benign23

Conflicting39

Pathogenic

Likely Pathogenic

347

VUS

357

Likely Benign

Benign

Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	32	2	1	0	35
Likely Pathogenic	79	9	0	0	88
VUS	18	291	28	10	347
Likely Benign	0	9	136	212	357
Benign	0	3	20	0	23
Conflicting	—				39
Total	129	314	185	222	889

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

View in ClinVar →

13 pathogenic / likely-pathogenic (of 18) ClinVar copy-number / structural variants overlap GATAD1 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →