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| Arrhythmogenic Cardiomyopathy v0.65 | LEMD2 |
Seb Lunke gene: LEMD2 was added gene: LEMD2 was added to Arrhythmogenic Cardiomyopathy. Sources: Literature founder tags were added to gene: LEMD2. Mode of inheritance for gene: LEMD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: LEMD2 were set to 31061923; 26788539; 30905398; 36377660 Phenotypes for gene: LEMD2 were set to arrhythmogenic right ventricular cardiomyopathy, MONDO:0016587 Penetrance for gene: LEMD2 were set to Incomplete Review for gene: LEMD2 was set to AMBER Added comment: Hom c38T>G LEMD2 variant associated with cataracts in 5 large Hutterite families, carriers at increased risk of sudden death associated with Arrhythmic dilated Cardiomyopathy. (pmid: 31061923, 26788539). Founder mutation, incomplete penetrance of cardiac phenotype likely. Later, a separate de-novo variant, c.1436C>T, has been described in two unrelated patients with an early progeroid appearance. No cataract or other ocular phenotypes were observed despite multiple ophthalmological examinations. Cardiac phenotypes do not appear to have been assessed. (pmid: 30905398) Most recently, Lemd2 knock-in mice for the c38T>G variants showed severe cardiomyopathy and premature death, which was rescued by AAV-Lemd2 vector induced overexpression. No indication of arrhythmia, cataract not assessed. (pmid: 36377660). It appears the cardiac and cataract phenotypes remain to be linked to the founder variant only, while no additional evidence for the progeroid phenotype is available at this time. Sources: Literature |
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| Arrhythmogenic Cardiomyopathy v0.58 | DES | Zornitza Stark Tag for review tag was added to gene: DES. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.51 | DES | Ivan Macciocca reviewed gene: DES: Rating: ; Mode of pathogenicity: None; Publications: PMID: 33831308; Phenotypes: ARVC; Mode of inheritance: None; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.25 | DES | Zornitza Stark Marked gene: DES as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.25 | DES | Zornitza Stark Gene: des has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.25 | DES | Zornitza Stark Classified gene: DES as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.25 | DES | Zornitza Stark Gene: des has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.24 | DES |
Zornitza Stark gene: DES was added gene: DES was added to Arrhythmogenic Cardiomyopathy. Sources: Expert list Mode of inheritance for gene: DES was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DES were set to 19879535; 20423733; 24200904; 22395865; 29212896; 23168288; 20829228 Phenotypes for gene: DES were set to Cardiomyopathy, dilated, 1I, MIM# 604765; Myopathy, myofibrillar, 1 , MIM#601419; Arrhythmogenic right ventricular cardiomyopathy Review for gene: DES was set to GREEN Added comment: Assessed as MODERATE by ClinGen for ARVC, note phenotypes overlap DCM and skeletal myopathy. Multiple families reported, supportive in vitro studies. Sources: Expert list |
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