TMEM43

transmembrane protein 43
OMIM: 612048, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Red TMEM43 in Neuromuscular disorders


Version 5.212
Latest signed off version: v5.43 (4 Mar 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Emery-Dreifuss muscular dystrophy 7, AD 614302

Green TMEM43 in Arrhythmogenic cardiomyopathy

Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 2.13
Latest signed off version: v2.9 (15 Oct 2020)

Component of the following Super Panels:

  • Sudden cardiac death
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • South West GLH
    • London South GLH
    • North West GLH
    • Expert Review Green
    • UKGTN
    • Expert list
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • Emory Genetics Laboratory
    Phenotypes
    • Arrhythmogenic right ventricular dysplasia 5 (604400)
    • Arrhythmogenic right ventricular dysplasia 5
    • Emery-Dreifuss muscular dystrophy 7, AD (614302)

    Red TMEM43 in Dilated Cardiomyopathy and conduction defects

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 1.70

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • South West GLH
    • Oxford Medical Genetics Laboratory

    Red TMEM43 in Congenital muscular dystrophy

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.12
    Latest signed off version: v2.2 (2 Mar 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Emery-Dreifuss muscular dystrophy 7, AD 614302

    Red TMEM43 in Arthrogryposis

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.113
    Latest signed off version: v3.2 (13 Feb 2020)

    review Not set
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    • Expert list
    Phenotypes
    • Arrhythmogenic right ventricular dysplasia 5, 604400

    Green TMEM43 in Dilated cardiomyopathy - adult and teen

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 1.25
    Latest signed off version: v1.6 (15 Oct 2020)

    Component of the following Super Panels:

  • Sudden cardiac death
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert List
    • Expert Review Green
    • South West GLH
    • London South GLH
    • North West GLH
    Phenotypes
    • Arrhythmogenic right ventricular dysplasia 5
    • Arrhythmogenic right ventricular dysplasia 5 (604400)
    • Emery-Dreifuss muscular dystrophy 7, AD (614302)

    Red TMEM43 in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.389

    review Not set
    Sources
    • NHS GMS
    • South West GLH
    • Emory Genetics Laboratory
    Phenotypes
    • Cardiomyopathy

    Green TMEM43 in Cardiomyopathies - including childhood onset


    Version 1.51
    Latest signed off version: v1.4 (19 Feb 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • South West GLH
    • Expert Review Green
    Phenotypes
    • Arrhythmogenic right ventricular dysplasia 5
    • Emery-Dreifuss muscular dystrophy 7, AD 614302

    Red TMEM43 in Hereditary neuropathy NOT PMP22 copy number


    Version 1.34
    Latest signed off version: v1.2 (27 Feb 2020)

    review Not set
    Sources
    • NHS GMS
    • South West GLH
    • Emory Genetics Laboratory
    • NHS GMS
    • South West GLH
    Phenotypes
    • Cardiomyopathy

    Green TMEM43 in Severe Paediatric Disorders


    Version 1.81

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Arrhythmogenic right ventricular dysplasia 5, 604400
    • Emery-Dreifuss muscular dystrophy 7, AD, 614302