Limb-Girdle Muscular Dystrophy and Distal Myopathy

Gene: TMEM43

Amber List (moderate evidence)

TMEM43 (transmembrane protein 43)
EnsemblGeneIds (GRCh38): ENSG00000170876
EnsemblGeneIds (GRCh37): ENSG00000170876
OMIM: 612048, Gene2Phenotype
TMEM43 is in 12 panels

1 review

Crystle Lee (Victorian Clinical Genetics Services)

I don't know

Minimal reports to date. Age of onset unclear but adult patients reported.

PMID: 21391237 (2011): Different variants reported in 2 adults with EDMD-related myopathy. Ile91Val present in gnomad, 20 hets. Other variant, Glu85Lys, presented in gnomad (1 het)

PMID: 30311943 (2019): 1 EDMD family reported with the same Glu85Lys variant. Muscle disease suspected at age of 17 in one family member.
Created: 23 Jun 2020, 11:27 p.m. | Last Modified: 23 Jun 2020, 11:28 p.m.
Panel Version: 0.78

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Emery-Dreifuss muscular dystrophy 7 (MIM#614302)

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Emery-Dreifuss muscular dystrophy 7, autosomal dominant MONDO:0013677
OMIM
612048
Clinvar variants
Variants in TMEM43
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Apr 2023, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: tmem43 has been classified as Amber List (Moderate Evidence).

17 Apr 2023, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: tmem43 has been classified as Amber List (Moderate Evidence).

14 Apr 2023, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: TMEM43 was added gene: TMEM43 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature Mode of inheritance for gene: TMEM43 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TMEM43 were set to 21391237; 30311943 Phenotypes for gene: TMEM43 were set to Emery-Dreifuss muscular dystrophy 7, autosomal dominant MONDO:0013677