Cardiomyopathy_Paediatric
Gene: PDLIM3

PDLIM3 (PDZ and LIM domain 3)
EnsemblGeneIds (GRCh38): ENSG00000154553
EnsemblGeneIds (GRCh37): ENSG00000154553
OMIM: 605889, Gene2Phenotype
PDLIM3 is in 5 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

PMID: 30681346;
LIMITED by ClinGen working group

PMID: 26455666;
1x proband with multi-exon deletion

PMID: 20801532;
1x proband het for a missense
Created: 18 Oct 2020, 5:58 a.m. | Last Modified: 18 Oct 2020, 5:58 a.m.

Panel Version: 0.21

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hypertrophic cardiomyopathy

Publications

Created: 18 Oct 2020, 5:58 a.m.
Last Modified: 18 Oct 2020, 5:58 a.m.
Panel version: 0.21

Ain Roesley (Victorian Clinical Genetics Services)

Red List (low evidence)

PMID: 30681346;
LIMITED by ClinGen working group

PMID: 26455666;
1x proband with multi-exon deletion

PMID: 20801532;
1x proband het for a missense
Sources: Literature
Created: 29 Jul 2020, 1:10 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Hypertrophic cardiomyopathy

Publications

Created: 29 Jul 2020, 1:10 a.m.

Panel version: Imported from Hypertrophic cardiomyopathy_HCM panel version 0.89

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Red
Literature
South West GLH
NHS GMS

Phenotypes

Hypertrophic cardiomyopathy

OMIM

605889

Clinvar variants

Variants in PDLIM3

Penetrance

None

Publications

Panels with this gene