Dilated Cardiomyopathy (DCM)
Gene: ANKRD1

ANKRD1 (ankyrin repeat domain 1)
EnsemblGeneIds (GRCh38): ENSG00000148677
EnsemblGeneIds (GRCh37): ENSG00000148677
OMIM: 609599, Gene2Phenotype
ANKRD1 is in 6 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

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 = 8.

Created: 19 Feb 2016, 1:55 p.m.

Publications

19525294
doi:10.1007/s12265-016-9673-5

Created: 19 Feb 2016, 1:55 p.m.

Panel version: 1.0

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

Red List (low evidence)

Variants in this GENE are reported as part of current diagnostic practice

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

Panel version: 0.3

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Emory Genetics Laboratory
Illumina TruGenome Clinical Sequencing Services
Expert list

Phenotypes

Dilated Cardiomyopathy, Dominant

OMIM

609599

Clinvar variants

Variants in ANKRD1

Penetrance

Complete

Panels with this gene