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  2. Hypertrophic cardiomyopathy_HCM
  3. PDLIM3
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Hypertrophic cardiomyopathy_HCM

Gene: PDLIM3

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

1 review

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: 0.89

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Hypertrophic cardiomyopathy
OMIM
605889
Clinvar variants
Variants in PDLIM3
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

29 Jul 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pdlim3 has been classified as Red List (Low Evidence).

29 Jul 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pdlim3 has been classified as Red List (Low Evidence).

29 Jul 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Ain Roesley (Victorian Clinical Genetics Services)

gene: PDLIM3 was added gene: PDLIM3 was added to Hypertrophic cardiomyopathy_HCM. Sources: Literature Mode of inheritance for gene: PDLIM3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PDLIM3 were set to 30681346; 26455666; 20801532 Phenotypes for gene: PDLIM3 were set to Hypertrophic cardiomyopathy Penetrance for gene: PDLIM3 were set to unknown Review for gene: PDLIM3 was set to RED