Dilated Cardiomyopathy
Gene: ANKRD1

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

DCM: Three missense variants, P105S, V107L, and M184I reported in 4 individuals in PMID: 19608030. However, note that P105S is present in 45 individuals in gnomad, and V107L in >200. Another 5 missense variants reported in PMID: 19525294. Of these, p.Thr116Met is present in 41 individuals in gnomad, p.Ala276Val in 745 individuals (and 6 homozygotes), p.Glu57Gln is present once, p.Arg66Gln is absent but an alternative change at same residue is present in >300, and p.Leu199Arg is absent. Overall, the population frequency of most of these variants is out of keeping for a Mendelian disorder.
Created: 20 Jun 2020, 7:10 a.m. | Last Modified: 20 Jun 2020, 7:10 a.m.

Panel Version: 0.40

Limited evidence for association with HOCM.
Created: 20 Jun 2020, 6:47 a.m. | Last Modified: 20 Jun 2020, 6:47 a.m.

Panel Version: 0.39

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Dilated cardiomyopathy

Publications

Created: 20 Jun 2020, 6:47 a.m.
Last Modified: 20 Jun 2020, 7:10 a.m.
Panel version: 0.40

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Red
Victorian Clinical Genetics Services

Phenotypes

Dilated cardiomyopathy

OMIM

609599

Clinvar variants

Variants in ANKRD1

Penetrance

None

Publications

Panels with this gene