Congenital muscular dystrophy

Gene: TMEM43

Red List (low evidence)

TMEM43 (transmembrane protein 43)
EnsemblGeneIds (GRCh38): ENSG00000170876
EnsemblGeneIds (GRCh37): ENSG00000170876
OMIM: 612048, Gene2Phenotype
TMEM43 is in 10 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.

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

Details

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

History Filter Activity

27 Jan 2017, Gel status: 1

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

27.01.2017 Panel revised after expert review and internal review with further curation.

25 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

25 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

25 Jan 2017, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for TMEM43 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

25 Jan 2017, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for TMEM43 were set to Emery-Dreifuss muscular dystrophy 7, AD 614302

25 Jan 2017, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for TMEM43 were set to Emery-Dreifuss muscular dystrophy 7, AD

19 Dec 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

TMEM43 was added to Congenital muscular dystrophypanel. Source:

23 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

TMEM43 was added to Congenital muscular dystrophypanel. Sources: Radboud University Medical Center, Nijmegen