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  3. TMEM43
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Dilated Cardiomyopathy and conduction defects

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

Rebecca Whittington (South West GLH)

Red List (low evidence)

Arrhythmogenic right ventricular dysplasia 5 OMIM#604400;Emery-Dreifuss muscular dystrophy 7, AD OMIM#614302
Created: 25 Mar 2019, 4:30 p.m.
HGMD: five variants three ?DM through Walsh 2017 and 2 DM through Dal Ferro 2017. Not strong evidence
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Created: 25 Mar 2019, 4:24 p.m.

Panel version: 1.55

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

Red List (low evidence)

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

Created: 6 Jan 2016, 5:12 p.m.

Panel version: Imported from "Dilated Cardiomyopathy (DCM)" panel version 0.3

History Filter Activity

21 Feb 2019, Gel status: 1

Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to TMEM43. Mode of inheritance for gene TMEM43 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Aug 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

TMEM43 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Oxford Medical Genetics Laboratory

17 Aug 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

TMEM43 was created by ellenmcdonagh