Dilated Cardiomyopathy
Gene: TMEM43EnsemblGeneIds (GRCh38): ENSG00000170876
EnsemblGeneIds (GRCh37): ENSG00000170876
OMIM: 612048, Gene2Phenotype
TMEM43 is in 12 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Comment when marking as ready: No established link with DCM, but included here due to phenotypic overlap with ARVC.Created: 5 Aug 2020, 6:17 a.m. | Last Modified: 5 Aug 2020, 6:17 a.m.
Panel Version: 0.60
Ain Roesley (Victorian Clinical Genetics Services)
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: LiteratureCreated: 5 Aug 2020, 2:01 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Arrhythmogenic right ventricular dysplasia 5 (MIM# 604400)
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- Arrhythmogenic right ventricular dysplasia 5 (MIM# 604400)
- OMIM
- 612048
- Clinvar variants
- Variants in TMEM43
- Penetrance
- unknown
- Publications
- Panels with this gene
-
- Deafness_IsolatedAndComplex
- Limb-Girdle Muscular Dystrophy and Distal Myopathy
- Incidentalome
- Deafness_Isolated
- Arrhythmogenic Cardiomyopathy
- Additional findings_Paediatric
- Additional findings_Adult
- Cardiomyopathy_Paediatric
- Incidentalome_PREGEN_DRAFT
- Dilated Cardiomyopathy
- BabyScreen+ newborn screening
- Transplant Co-Morbidity Superpanel
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tmem43 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tmem43 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Ain Roesley (Victorian Clinical Genetics Services)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