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| Cardiomyopathy_Paediatric v1.17 | PLEKHM2 | Zornitza Stark Marked gene: PLEKHM2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.17 | PLEKHM2 | Zornitza Stark Gene: plekhm2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.17 | PLEKHM2 | Zornitza Stark Classified gene: PLEKHM2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.17 | PLEKHM2 | Zornitza Stark Gene: plekhm2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.16 | PLEKHM2 |
Zornitza Stark gene: PLEKHM2 was added gene: PLEKHM2 was added to Cardiomyopathy_Paediatric. Sources: Literature Mode of inheritance for gene: PLEKHM2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLEKHM2 were set to 37349842; 36555735; 35862026; 34088011; 26464484 Phenotypes for gene: PLEKHM2 were set to dilated cardiomyopathy, MONDO:0005021, PLEKHM2-related Review for gene: PLEKHM2 was set to AMBER Added comment: Five studies (PMID 26464484, PMID 35862026, PMID 34088011, PMID 36555735, PMID 37349842) report biallelic loss‑of‑function variants in PLEKHM2 causing early‑onset dilated cardiomyopathy with left ventricular non‑compaction (DCM‑LVNC), onset in late childhood/early adolescence. However, note that all but one of the reported families has the same homozygous variant ?founder effect. Some functional data provided. Sources: Literature |
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