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 0.73 Component of the following Super Panels: Adult Cardiac SuperPanel Arrhythmia_SuperPanel Cardiomyopathy_Adult_SuperPanel	2 reviews	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 1.48 Component of the following Super Panels: Adult Cardiac SuperPanel Cardiomyopathy_Adult_SuperPanel	2 reviews	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 0.360	3 reviews	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 1.238	1 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 1.130	1 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 1.63 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	1 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 1.82	1 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 0.207	0 reviews	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	0 reviews	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	1 review	Unknown	Sources Expert Review Amber NSW Health Pathology
Red TMEM43 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	2 reviews	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 Level 2: Screening Version 0.20	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Arrhythmogenic right ventricular dysplasia 5, MIM# 604400