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| Dilated Cardiomyopathy v0.60 | TMEM43 | Zornitza Stark Marked gene: TMEM43 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.60 | TMEM43 | Zornitza Stark Added comment: Comment when marking as ready: No established link with DCM, but included here due to phenotypic overlap with ARVC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.60 | TMEM43 | Zornitza Stark Gene: tmem43 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.60 | TMEM43 | Zornitza Stark Classified gene: TMEM43 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.60 | TMEM43 | Zornitza Stark Gene: tmem43 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.55 | TMEM43 |
Ain Roesley gene: TMEM43 was added gene: TMEM43 was added to Dilated Cardiomyopathy. Sources: Literature Mode of inheritance for gene: TMEM43 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TMEM43 were set to 18313022; 21214875; 23812740; 22725725; 24598986 Phenotypes for gene: TMEM43 were set to Arrhythmogenic right ventricular dysplasia 5 (MIM# 604400) Penetrance for gene: TMEM43 were set to unknown Review for gene: TMEM43 was set to AMBER Added comment: Definitive for ARVC by ClinGen working group p.(Ser358Leu) is known as the "Newfoundland" founder variant From ClinGen: At least 9 variants (mostly missense) have been reported. However, the pathogenicity of most of the variants is unknown. The majority of genetic evidence comes from case-level data and segregation data for one founder variant, p.(Ser358Leu), which has been reported in more than 20 families with ARVC and occurred 1x de novo (PMID:18313022;21214875;23812740; 22725725;24598986). *no reports for isolated DCM Sources: Literature |
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