Arrhythmogenic Cardiomyopathy
Gene: DSPreviewed by ClinGen Expert panel (published in 2021 PMID: 33831308) - DEFINITIVECreated: 27 May 2021, 5:14 a.m. | Last Modified: 27 May 2021, 5:14 a.m.
Panel Version: 0.47
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
ARVC, palmoplantar keratoderma, wool hair, Carvajal syndrome
Publications
Association of bi-allelic variants and Carvajal syndrome is also well established (ARVC, woolly hair, PPK), although ClinGen have only assessed association between mono-allelic variants and ARVC.Created: 27 May 2021, 5:37 a.m. | Last Modified: 27 May 2021, 5:37 a.m.
Panel Version: 0.48
DEFINITIVE by ClinGen. Multiple families, gene-disease association supported by mouse model.Created: 3 Oct 2020, 9:30 a.m. | Last Modified: 3 Oct 2020, 9:30 a.m.
Panel Version: 0.39
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Arrhythmogenic right ventricular dysplasia 8, MIM# 607450
Publications
Phenotypes for gene: DSP were changed from Arrhythmogenic right ventricular dysplasia 8, MIM# 607450 to Arrhythmogenic right ventricular dysplasia 8, MIM# 607450; Carvajal syndrome
Publications for gene: DSP were set to 15941723; 25765472; 23954618; 20864495; 21397041; 24938629; 22240500
Mode of inheritance for gene: DSP was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gene: dsp has been classified as Green List (High Evidence).
Phenotypes for gene: DSP were changed from to Arrhythmogenic right ventricular dysplasia 8, MIM# 607450
Publications for gene: DSP were set to
Mode of inheritance for gene: DSP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
gene: DSP was added gene: DSP was added to Arrhythmogenic right ventricular cardiomyopathy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: DSP was set to Unknown