TMEM43

transmembrane protein 43
OMIM: 612048, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
No list TMEM43 in Auditory Neuropathy Spectrum Disorde Level 3: Non-syndromic hearing loss Level 2: Hearing and ear disorders Version 1.9	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Phenotypes Auditory neuropathy
Green TMEM43 in Arrhythmogenic right ventricular cardiomyopathy Level 3: Cardiomyopathy Level 2: Cardiovascular disorders Version 3.11 Latest signed off version: v3.10 (1 May 2024) 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	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 1.85	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 4.24 Latest signed off version: v4.23 (1 May 2024) Component of the following Super Panels: Hypotonic infant Other rare 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, OMIM:614302
Red TMEM43 in Arthrogryposis Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 6.3 Latest signed off version: v6.0 (1 May 2024)	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 and arrhythmogenic cardiomyopathy Level 3: Cardiomyopathy Level 2: Cardiovascular disorders Version 2.25 Latest signed off version: v2.23 (1 May 2024) 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	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 1.478	review	Not set	Sources NHS GMS South West GLH Emory Genetics Laboratory Phenotypes Cardiomyopathy
Green TMEM43 in Paediatric or syndromic cardiomyopathy Version 4.3 Latest signed off version: v4.0 (1 May 2024) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	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 or pain disorder Version 4.11 Latest signed off version: v4.0 (1 May 2024)	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 1.184	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