dilated cardiomyopathy 2B
Findings
No curated finding names dilated cardiomyopathy 2B yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the GATAD1 gene.
Definition from the Mondo Disease Ontology (MONDO:0013848), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Middle age onset
HPO, annotations 2026-09-02
Features
4 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Congestive heart failureHPOHP:0001635
- 2 of 2 reported patients
- Dilated cardiomyopathyHPOHP:0001644
- 2 of 2 reported patients
- Reduced left ventricular ejection fractionHPOHP:0012664
- 2 of 2 reported patients
- Atrial fibrillationHPOHP:0005110
- 1 of 2 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- GATAD1HGNC:29941
- Limited · Ambry Genetics · Autosomal recessive · 2022
- Limited · ClinGen · Autosomal recessive · 2026
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Limited · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
5 names
Resolves to: dilated cardiomyopathy 2B
- Also called
- cardiomyopathy, dilated, type 2BCMD2Bdilated cardiomyopathy type 2Bfamilial isolated dilated cardiomyopathy caused by mutation in GATAD1GATAD1 familial isolated dilated cardiomyopathy