Dilated Cardiomyopathy and conduction defects
Gene: GATAD1

GATAD1 (GATA zinc finger domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000157259
EnsemblGeneIds (GRCh37): ENSG00000157259
OMIM: 614518, Gene2Phenotype
GATAD1 is in 4 panels

3 reviews

Rebecca Whittington (South West GLH)

Green List (high evidence)

?Cardiomyopathy, dilated, 2B OMIM#614672
Created: 25 Mar 2019, 4:30 p.m.

On the Inherited Cardiac Condition Genes panel for Dilated cardiomyopathy reported in: Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes, Pua et al, Journal of Cardiovascular Translational Research, online Feb 2016 (doi:10._1007/_s12265-016-9673-5). The panel contains disease-causing, putatively pathogenic, research and phenocopy genes, and it is unclear from the publication whether this gene falls into the disease-causing category. No. of mutations indicated in supplemental table = 1. HGMD: only one variant - AR disease: Theis (2011) Circ Cardiovasc Genet 4: 585 PubMed: 21965549 Summary: 1 piece of literature with one homozygote variant - two affected individuals and consanguenious family. Functional studies undertaken.
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 25 Mar 2019, 4:24 p.m.

Panel version: 1.55

Ellen McDonagh (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.
Created: 20 Feb 2019, 2:17 p.m.

On the Inherited Cardiac Condition Genes panel for Dilated cardiomyopathy reported in: Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes, Pua et al, Journal of Cardiovascular Translational Research, online Feb 2016 (doi:10.1007/s12265-016-9673-5). The panel contains disease-causing, putatively pathogenic, research and phenocopy genes, and it is unclear from the publication whether this gene falls into the disease-causing category. No. of mutations indicated in supplemental table = 1.

Created: 19 Feb 2016, 1:58 p.m.

Publications

21965549
doi:10.1007/s12265-016-9673-5

Created: 19 Feb 2016, 1:57 p.m.

Panel version: 1.46

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

I don't know

Created: 6 Jan 2016, 5:12 p.m.

Panel version: 0.0

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

South West GLH
London South GLH
Expert list
Emory Genetics Laboratory
Radboud University Medical Center, Nijmegen

Phenotypes

Cardiomyopathy, dilated, 2B

OMIM

614518

Clinvar variants

Variants in GATAD1

Penetrance

Complete

Panels with this gene