TMEM43:Ensemblv115

transmembrane protein 43
OMIM: 612048, ClinGen, DECIPHER

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green TMEM43 in Arrhythmogenic Cardiomyopathy Level 2: Cardiovascular disorders Version 1.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Arrhythmogenic right ventricular dysplasia 5, MIM# 604400 Tags founder
Amber TMEM43 in Dilated Cardiomyopathy Level 2: Cardiovascular disorders Version 2.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Expert Review Amber Phenotypes Arrhythmogenic right ventricular dysplasia 5 (MIM# 604400)
Green TMEM43 in Incidentalome Version 1.0	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Victorian Clinical Genetics Services Literature Expert Review Green 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 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Expert Review Amber Phenotypes Auditory neuropathy, autosomal dominant 3, MIM# 619832
Green TMEM43 in Additional findings_Adult Level 2: Screening Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Melbourne Genomics Health Alliance Expert Review Green 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 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Expert Review Amber Phenotypes Emery-Dreifuss muscular dystrophy 7, autosomal dominant MONDO:0013677
Amber TMEM43 in Deafness_Isolated Level 2: Hearing and ear disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Expert Review Amber Phenotypes Auditory neuropathy, autosomal dominant 3, MIM# 619832
Green TMEM43 in Cardiomyopathy_Paediatric Level 2: Cardiovascular disorders Version 1.0	0 reviews	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
Green TMEM43 in Additional findings_Paediatric Level 2: Screening Version 1.0	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green BabySeq Category A gene Phenotypes Arrhythmogenic right ventricular dysplasia 5
Green TMEM43 in Transplant Co-Morbidity Level 2: Screening Version 1.0	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Arrhythmogenic right ventricular dysplasia 5, MIM# 604400