Genomics England
GMS Panels
Panels
Genes and Entities

TMEM43

transmembrane protein 43
OMIM: 612048
PanelMode of inheritanceDetails
3 panels
Green
in Arrhythmogenic right ventricular cardiomyopathy
Component of the following Super Panels:
  • - Sudden unexplained death or survivors of a cardiac event
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R133
Signed-off version 3.12
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Arrhythmogenic right ventricular dysplasia 5 (604400), Arrhythmogenic right ventricular dysplasia 5, Emery-Dreifuss muscular dystrophy 7, AD (614302)
Green
in Dilated and arrhythmogenic cardiomyopathy
Component of the following Super Panels:
  • - Sudden unexplained death or survivors of a cardiac event
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R132
Signed-off version 2.32
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Arrhythmogenic right ventricular dysplasia 5, Arrhythmogenic right ventricular dysplasia 5 (604400), Emery-Dreifuss muscular dystrophy 7, AD (614302)
Green
in Paediatric or syndromic cardiomyopathy
Component of the following Super Panels:
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R135
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Arrhythmogenic right ventricular dysplasia 5, Emery-Dreifuss muscular dystrophy 7, AD 614302