Cardiomyopathy_Paediatric
Gene: TMEM43
TMEM43 (transmembrane protein 43)
EnsemblGeneIds (GRCh38): ENSG00000170876
EnsemblGeneIds (GRCh37): ENSG00000170876
OMIM: 612048, Gene2Phenotype
TMEM43 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000170876
EnsemblGeneIds (GRCh37): ENSG00000170876
OMIM: 612048, Gene2Phenotype
TMEM43 is in 12 panels
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- South West GLH
- NHS GMS
- Phenotypes
-
- Arrhythmogenic right ventricular dysplasia 5
- Emery-Dreifuss muscular dystrophy 7, AD 614302
- OMIM
- 612048
- Clinvar variants
- Variants in TMEM43
- Penetrance
- None
- Panels with this gene
-
- Deafness_IsolatedAndComplex
- Limb-Girdle Muscular Dystrophy and Distal Myopathy
- Incidentalome
- Deafness_Isolated
- Additional findings_Adult
- Arrhythmogenic Cardiomyopathy
- Additional findings_Paediatric
- Cardiomyopathy_Paediatric
- Incidentalome_PREGEN_DRAFT
- Dilated Cardiomyopathy
- BabyScreen+ newborn screening
- Transplant Co-Morbidity Superpanel
History Filter Activity
28 Jul 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: TMEM43 was added gene: TMEM43 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green Mode of inheritance for gene: TMEM43 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TMEM43 were set to Arrhythmogenic right ventricular dysplasia 5; Emery-Dreifuss muscular dystrophy 7, AD 614302