Limb-Girdle Muscular Dystrophy and Distal Myopathy
Gene: TMEM43EnsemblGeneIds (GRCh38): ENSG00000170876
EnsemblGeneIds (GRCh37): ENSG00000170876
OMIM: 612048, Gene2Phenotype
TMEM43 is in 12 panels
1 review
Crystle Lee (Victorian Clinical Genetics Services)
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
-
- Deafness_IsolatedAndComplex
- Limb-Girdle Muscular Dystrophy and Distal Myopathy
- Incidentalome
- Deafness_Isolated
- Arrhythmogenic Cardiomyopathy
- Additional findings_Paediatric
- Additional findings_Adult
- Cardiomyopathy_Paediatric
- Incidentalome_PREGEN_DRAFT
- Dilated Cardiomyopathy
- BabyScreen+ newborn screening
- Transplant Co-Morbidity Superpanel
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: tmem43 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: tmem43 has been classified as Amber List (Moderate Evidence).
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