1. Panels
  2. Congenital muscular dystrophy and congenital myopathy
  3. TMEM43
STRs in panel
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Congenital muscular dystrophy and congenital myopathy

Gene: TMEM43

Red List (low evidence)
TMEM43 (transmembrane protein 43)
EnsemblGeneIds (GRCh38): ENSG00000170876
EnsemblGeneIds (GRCh37): ENSG00000170876
OMIM: 612048, Gene2Phenotype
TMEM43 is in 9 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Rated red by reviewer due to phenotype not being associated with congenital muscular dystrophy.
Created: 25 Jan 2017, 12:32 p.m.
Created: 25 Jan 2017, 12:32 p.m.

Copied from panel: Congenital muscular dystrophy v3.91

Emma Clement (Great Ormond Street Hospital)

Red List (low evidence)

EDMD tpye presentation
Created: 19 Dec 2016, 11:47 a.m.

Phenotypes
Arrhythmogenic right ventricular dysplasia 5, 604400

Created: 19 Dec 2016, 11:47 a.m.

Copied from panel: Congenital muscular dystrophy v3.91

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert Review Red
Phenotypes
  • Emery-Dreifuss muscular dystrophy 7, AD, OMIM:614302
OMIM
612048
Clinvar variants
Variants in TMEM43
Penetrance
Complete
Panels with this gene

History Filter Activity

6 Feb 2023, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes, Set penetrance

Arina Puzriakova (Genomics England Curator)

gene: TMEM43 was added gene: TMEM43 was added to Congenital muscular dystrophy and congenital myopathy. Sources: Expert Review Red,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: TMEM43 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TMEM43 were set to Emery-Dreifuss muscular dystrophy 7, AD, OMIM:614302 Penetrance for gene: TMEM43 were set to Complete