TMEM43

transmembrane protein 43
OMIM: 612048, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green TMEM43 in Arrhythmogenic Cardiomyopathy Level 2: Cardiovascular disorders Version 0.68 Component of the following Super Panels: Adult Cardiac SuperPanel Arrhythmia_SuperPanel Cardiomyopathy_Adult_SuperPanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Arrhythmogenic right ventricular dysplasia 5, MIM# 604400 Tags founder
Amber TMEM43 in Dilated Cardiomyopathy Level 2: Cardiovascular disorders Version 1.33 Component of the following Super Panels: Adult Cardiac SuperPanel Cardiomyopathy_Adult_SuperPanel	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Arrhythmogenic right ventricular dysplasia 5 (MIM# 604400)
Green TMEM43 in Incidentalome Version 0.301	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Arrhythmogenic right ventricular dysplasia 5, MIM# 604400 Auditory neuropathy, autosomal dominant 3, MIM# 619832 Emery-Dreifuss muscular dystrophy 7 (MIM#614302) Tags cardiac
Amber TMEM43 in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.194	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Auditory neuropathy, autosomal dominant 3, MIM# 619832
Green TMEM43 in Additional findings_Adult Level 2: Screening Version 0.166	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Phenotypes Arrhythmogenic right ventricular dysplasia 5, MIM# 604400
Amber TMEM43 in Limb-Girdle Muscular Dystrophy and Distal Myopathy Level 2: Neurology and neurodevelopmental disorders Version 1.27 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Emery-Dreifuss muscular dystrophy 7, autosomal dominant MONDO:0013677
Amber TMEM43 in Deafness_Isolated Level 2: Hearing and ear disorders Version 1.63	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Auditory neuropathy, autosomal dominant 3, MIM# 619832
Green TMEM43 in Cardiomyopathy_Paediatric Level 2: Cardiovascular disorders Version 0.192	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green South West GLH NHS GMS Phenotypes Arrhythmogenic right ventricular dysplasia 5 Emery-Dreifuss muscular dystrophy 7, AD 614302
Green TMEM43 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Arrhythmogenic right ventricular dysplasia 5
Amber TMEM43 in Incidentalome_PREGEN_DRAFT Version 0.43	review	Unknown	Sources Expert Review Amber NSW Health Pathology
Red TMEM43 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BabySeq Category A gene Phenotypes Arrhythmogenic right ventricular dysplasia 5 MIM#604400 Tags cardiac treatable
Green TMEM43 in Transplant Co-Morbidity Superpanel Level 2: Screening Version 0.18	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Arrhythmogenic right ventricular dysplasia 5, MIM# 604400