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  2. Dilated Cardiomyopathy
  3. PLEKHM2
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Dilated Cardiomyopathy

Gene: PLEKHM2

Amber List (moderate evidence)
PLEKHM2 (pleckstrin homology and RUN domain containing M2)
EnsemblGeneIds (GRCh38): ENSG00000116786
EnsemblGeneIds (GRCh37): ENSG00000116786
OMIM: 609613, Gene2Phenotype
PLEKHM2 is in 2 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

2 unrelated families reported with DCM and supporting functional evidence
PMID: 35862026 - 21 yo with DCM with bialleic PLEKHM2 variants. Loss PLEKHM2 expression was found in the proband’s myocardial tissue

PMID: 26464484 - a homozygous frameshift variant (p.Lys645AlafsTer12) segregates with early-onset (adolescent) DCM and LVNC in a large consanguineous Bedouin family

PMID: 38942823 - murine model suggests Plekhm2 acts as an autophagy modulator in cardiofibroblasts

PMID: 38490981, 37349842 - supportive PLEKHM2 knockout iPSC-cardiomyocyte models
Sources: Literature
Created: 31 Aug 2024, 7 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dilated cardiomyopathy MONDO:0005021

Publications

Created: 31 Aug 2024, 7 a.m.

Panel version: 1.36

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Dilated cardiomyopathy MONDO:0005021
OMIM
609613
Clinvar variants
Variants in PLEKHM2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

31 Aug 2024, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: plekhm2 has been classified as Amber List (Moderate Evidence).

31 Aug 2024, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: plekhm2 has been classified as Amber List (Moderate Evidence).

31 Aug 2024, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: PLEKHM2 was added gene: PLEKHM2 was added to Dilated Cardiomyopathy. Sources: Literature Mode of inheritance for gene: PLEKHM2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLEKHM2 were set to 35862026; 26464484; 38942823; 38490981; 37349842 Phenotypes for gene: PLEKHM2 were set to Dilated cardiomyopathy MONDO:0005021 Review for gene: PLEKHM2 was set to AMBER