ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 (disorder)
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 (disorder)
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Fetal arrhythmogenic right ventricular cardiomyopathy with double mutations in TMEM43.
|
26840987 |
2016 |
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 (disorder)
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
TMEM43 mutation p.S358L alters intercalated disc protein expression and reduces conduction velocity in arrhythmogenic right ventricular cardiomyopathy.
|
25343256 |
2014 |
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 (disorder)
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations.
|
23812740 |
2013 |
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 (disorder)
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Mutation analysis and evaluation of the cardiac localization of TMEM43 in arrhythmogenic right ventricular cardiomyopathy.
|
21214875 |
2011 |
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 (disorder)
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene.
|
18313022 |
2008 |
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 (disorder)
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene.
|
18313022 |
2008 |
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 (disorder)
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 (disorder)
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Fetal arrhythmogenic right ventricular cardiomyopathy with double mutations in TMEM43.
|
26840987 |
2016 |
EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
TMEM43 mutations in Emery-Dreifuss muscular dystrophy-related myopathy.
|
21391237 |
2011 |
EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
|
0.500 |
GermlineCausalMutation
|
disease |
ORPHANET |
TMEM43 mutations in Emery-Dreifuss muscular dystrophy-related myopathy.
|
21391237 |
2011 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
|
0.500 |
Biomarker
|
disease |
CTD_human |
|
|
|
Cardiomyopathies
|
0.420 |
GeneticVariation
|
group |
BEFREE |
The most aggressive arrhythmogenic cardiomyopathy/ARVC subtype is ARVC type 5 (ARVC5), caused by a p.S358L mutation in TMEM43 (transmembrane protein 43).
|
31567019 |
2019 |
Cardiomyopathies
|
0.420 |
GeneticVariation
|
group |
BEFREE |
To determine whether mutations in TMEM43 cause ARVC/D and arrhythmogenic cardiomyopathy in other populations, we fully re-sequenced TMEM43 on 143 ARVC/D probands (families) from the UK and 55 probands (from 55 families) from Newfoundland.
|
23161701 |
2013 |
Cardiomyopathies
|
0.420 |
Biomarker
|
group |
GENOMICS_ENGLAND |
|
|
|
Cardiomyopathies
|
0.420 |
GeneticVariation
|
group |
CLINVAR |
|
|
|
Sudden Cardiac Death
|
0.400 |
Biomarker
|
phenotype |
CTD_human |
We discovered rare variants in three genes that are clinically associated with sudden cardiac death-TMEM43, DSP, and MYBPC3.
|
20435227 |
2010 |
Sudden Cardiac Death
|
0.400 |
Biomarker
|
phenotype |
HPO |
|
|
|
Muscular Dystrophy, Emery-Dreifuss
|
0.320 |
GeneticVariation
|
disease |
BEFREE |
Additional EDMD-like syndromes are caused by mutations in nesprins and LUMA.
|
24365856 |
2014 |
Muscular Dystrophy, Emery-Dreifuss
|
0.320 |
Biomarker
|
disease |
BEFREE |
We therefore analyzed TMEM43, which encodes LUMA, a newly identified nuclear membrane protein and also a binding partner of emerin and lamins, to investigate whether LUMA may contribute to the pathomechanism of EDMD-related myopathy.
|
21391237 |
2011 |
Muscular Dystrophy, Emery-Dreifuss
|
0.320 |
Biomarker
|
disease |
CTD_human |
|
|
|