1. Panels
  2. Molecular autopsy
  3. TMEM43
Genes in panel
Prev Next
STRs in panel
Prev Next

Molecular autopsy

Gene: TMEM43

Green List (high 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)

I don't know

This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.
Created: 20 Feb 2019, 2:17 p.m.
Created: 20 Feb 2019, 2:17 p.m.

Panel version: 0.86

James Eden (Manchester)

Green List (high evidence)

Gene currently tested on Manchester cardiac gene panel. 24 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: association with arrhythmogenic right ventricular dysplasia 5 (accessed 29/01/2019).
Created: 14 Feb 2019, 1:38 p.m.

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

Phenotypes
Arrhythmogenic right ventricular dysplasia 5 (604400); Emery-Dreifuss muscular dystrophy 7, AD (614302)

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 14 Feb 2019, 1:38 p.m.

Panel version: 0.82

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • London South GLH
  • North West GLH
  • Expert Review Green
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 5 (604400)
  • Emery-Dreifuss muscular dystrophy 7, AD 614302
  • Emery-Dreifuss muscular dystrophy 7, AD (614302)
  • Arrhythmogenic right ventricular dysplasia 5
OMIM
612048
Clinvar variants
Variants in TMEM43
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2019, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

Source London South GLH was added to TMEM43.

14 Feb 2019, Gel status: 4

Added New Source, Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Source North West GLH was added to TMEM43. Added phenotypes Emery-Dreifuss muscular dystrophy 7, AD (614302); Arrhythmogenic right ventricular dysplasia 5 (604400) for gene: TMEM43 Publications for gene TMEM43 were changed from to 27532257; 23812740

20 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: TMEM43 was added gene: TMEM43 was added to Molecular autopsy. Sources: Expert Review Green 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 614302; Arrhythmogenic right ventricular dysplasia 5