| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Mendeliome v1.4774 | PLEKHM2 | Rylee Peters Phenotypes for gene: PLEKHM2 were changed from Dilated cardiomyopathy MONDO:0005021 to Dilated cardiomyopathy, MONDO:0005021, PLEKHM2-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4773 | PLEKHM2 | Rylee Peters Publications for gene: PLEKHM2 were set to 35862026; 26464484; 38942823; 38490981; 37349842 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4754 | PLEKHM2 | Rylee Peters reviewed gene: PLEKHM2: Rating: AMBER; Mode of pathogenicity: None; Publications: 40054934; Phenotypes: Dilated cardiomyopathy, MONDO:0005021, PLEKHM2-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1973 | PLEKHM2 | Bryony Thompson Marked gene: PLEKHM2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1973 | PLEKHM2 | Bryony Thompson Gene: plekhm2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1973 | PLEKHM2 | Bryony Thompson Classified gene: PLEKHM2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1973 | PLEKHM2 | Bryony Thompson Gene: plekhm2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1972 | PLEKHM2 |
Bryony Thompson gene: PLEKHM2 was added gene: PLEKHM2 was added to Mendeliome. 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 Added comment: 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 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||