This Panel is marked as Retired
Dilated Cardiomyopathy (DCM)
Gene: TMEM43
TMEM43 (transmembrane protein 43)
EnsemblGeneIds (GRCh38): ENSG00000170876
EnsemblGeneIds (GRCh37): ENSG00000170876
OMIM: 612048, Gene2Phenotype
TMEM43 is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000170876
EnsemblGeneIds (GRCh37): ENSG00000170876
OMIM: 612048, Gene2Phenotype
TMEM43 is in 9 panels
1 review
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)
Variants in this GENE are reported as part of current diagnostic practice
Details
- Sources
-
- OMIM
- 612048
- Clinvar variants
- Variants in TMEM43
- Penetrance
- Complete
- Panels with this gene
-
- Hereditary neuropathy
- Dilated and arrhythmogenic cardiomyopathy
- Dilated Cardiomyopathy and conduction defects
- Arthrogryposis
- Paediatric or syndromic cardiomyopathy
- Hereditary neuropathy or pain disorder
- Arrhythmogenic right ventricular cardiomyopathy
- Congenital muscular dystrophy
- Auditory Neuropathy Spectrum Disorde
History Filter Activity
11 Feb 2016, Gel status: 0
Approved Gene
Caroline Wright (Genomics England Curator)This proposed gene was validated and added to this panel
6 Jan 2016, Gel status: 0
Added New Source
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)TMEM43 was added to Dilated Cardiomyopathy (DCM)panel. Sources: Oxford Medical Genetics Laboratory
6 Jan 2016, Gel status: 0
Created
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)TMEM43 was created by OxfordGenetics