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| Cardiomyopathy_Paediatric v1.159 | DSC2 | Zornitza Stark Marked gene: DSC2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.159 | DSC2 | Zornitza Stark Gene: dsc2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.159 | DSC2 | Zornitza Stark Phenotypes for gene: DSC2 were changed from Arrhythmogenic right ventricular dysplasia 11; Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair to familial isolated arrhythmogenic right ventricular dysplasia, MONDO:0016342 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.157 | DSC2 | Zornitza Stark Publications for gene: DSC2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.156 | DSC2 | Zornitza Stark Mode of inheritance for gene: DSC2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.155 | DSC2 | Zornitza Stark Classified gene: DSC2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.155 | DSC2 | Zornitza Stark Gene: dsc2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.147 | DSC2 |
Richard Lin changed review comment from: Two studies report 3 unrelated patients with biallelic DSC2 variants and paediatric onset arrhythmogenic (right ventricular) cardiomyopathy (PMIDs: 24793512, 26310507). Reported variants in DSC2 are likely VUS. PMID: 24793512 - 10 year old F with sudden cardiac arrest and typical/advanced features of ARVC, found to be homozygous for an inframe deletion in DSC2:c.712_714delGAT, p.(Asp238del). 2 male sibs and both parents heterozygous for the same variant, clinically unaffected. PMID: 26310507 - cohort study which found a homozygous missense variant DSC2: c.536A>G, p.(Asp179Gly) in 5 patients from 4 families, including 2 unrelated paediatric patients aged 14 and 11 with arrhythmogenic cardiomyopathy PMID: 20197793 - functional study which shown that the DSC2 p.Asp179Gly variant protein correctly colocalizes at the cell membrane with endogenous desmoglein in a transfected desmosome-forming cell line, indicating this variant has no impact on desmosome assembly; to: Association between heterozygous variants and arrhythmogenic right ventricular dysplasia classified as definitive by ClinGen. Reported cases are adult-onset disease. Two studies report 3 unrelated patients with biallelic DSC2 variants and paediatric onset arrhythmogenic (right ventricular) cardiomyopathy (PMIDs: 24793512, 26310507), though reported variants are likely VUS. PMID: 24793512 - 10 year old F with sudden cardiac arrest and typical/advanced features of ARVC, found to be homozygous for an inframe deletion in DSC2:c.712_714delGAT, p.(Asp238del). 2 male sibs and both parents heterozygous for the same variant, clinically unaffected. PMID: 26310507 - cohort study which found a homozygous missense variant DSC2: c.536A>G, p.(Asp179Gly) in 5 patients from 4 families, including 2 unrelated paediatric patients aged 14 and 11 with arrhythmogenic cardiomyopathy PMID: 20197793 - functional study which shown that the DSC2 p.Asp179Gly variant protein correctly colocalises at the cell membrane with endogenous desmoglein in a transfected desmosome-forming cell line, indicating this variant has no impact on desmosome assembly |
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| Cardiomyopathy_Paediatric v1.147 | DSC2 |
Richard Lin changed review comment from: Two studies report 3 unrelated patients with paediatric onset arrhythmogenic (right ventricular) cardiomyopathy (PMIDs: 24793512, 26310507). Reported variants are likely VUS. PMID: 24793512 - 10 year old F with sudden cardiac arrest and typical/advanced features of ARVC, found to be homozygous for an inframe deletion in DSC2:c.712_714delGAT, p.(Asp238del). 2 male sibs and both parents heterozygous for the same variant, clinically unaffected. PMID: 26310507 - cohort study which found a homozygous missense variant DSC2: c.536A>G, p.(Asp179Gly) in 5 patients from 4 families, including 2 unrelated paediatric patients aged 14 and 11 with arrhythmogenic cardiomyopathy PMID: 20197793 - functional study which shown that the DSC2 p.Asp179Gly variant protein correctly colocalizes at the cell membrane with endogenous desmoglein in a transfected desmosome-forming cell line, indicating this variant has no impact on desmosome assembly; to: Two studies report 3 unrelated patients with biallelic DSC2 variants and paediatric onset arrhythmogenic (right ventricular) cardiomyopathy (PMIDs: 24793512, 26310507). Reported variants in DSC2 are likely VUS. PMID: 24793512 - 10 year old F with sudden cardiac arrest and typical/advanced features of ARVC, found to be homozygous for an inframe deletion in DSC2:c.712_714delGAT, p.(Asp238del). 2 male sibs and both parents heterozygous for the same variant, clinically unaffected. PMID: 26310507 - cohort study which found a homozygous missense variant DSC2: c.536A>G, p.(Asp179Gly) in 5 patients from 4 families, including 2 unrelated paediatric patients aged 14 and 11 with arrhythmogenic cardiomyopathy PMID: 20197793 - functional study which shown that the DSC2 p.Asp179Gly variant protein correctly colocalizes at the cell membrane with endogenous desmoglein in a transfected desmosome-forming cell line, indicating this variant has no impact on desmosome assembly |
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| Cardiomyopathy_Paediatric v1.147 | DSC2 |
Richard Lin changed review comment from: Two studies report 3 unrelated patients with paediatric onset arrhythmogenic (right ventricular) cardiomyopathy (PMIDs: 24793512, 26310507). Reported variants are likely VUS. PMID: 24793512 - 10 year old F with sudden cardiac arrest and typical/advanced features of ARVC, found to be homozygous for an inframe deletion in DSC2:c.712_714delGAT, p.(Asp238del). 2 male sibs and both parents heterozygous for the same variant, clinically unaffected. PMID: 26310507 - cohort study which found a homozygous missense variant DSC2: c.536A>G, p.(Asp179Gly) in 5 patients from 4 families, including 2 unrelated paediatric patients aged 14 and 11 with arrhythmogenic cardiomyopathy PMID: 20197793 - functional study which shown that the DSC2 p.Asp179Gly variant protein correctly colocalizes at the cell membrane with endogenous desmoglein in a transfected desmosome-forming cell line, indicating this variant has no impact on desmosome assembly; to: Two studies report 3 unrelated patients with paediatric onset arrhythmogenic (right ventricular) cardiomyopathy (PMIDs: 24793512, 26310507). Reported variants are likely VUS. PMID: 24793512 - 10 year old F with sudden cardiac arrest and typical/advanced features of ARVC, found to be homozygous for an inframe deletion in DSC2:c.712_714delGAT, p.(Asp238del). 2 male sibs and both parents heterozygous for the same variant, clinically unaffected. PMID: 26310507 - cohort study which found a homozygous missense variant DSC2: c.536A>G, p.(Asp179Gly) in 5 patients from 4 families, including 2 unrelated paediatric patients aged 14 and 11 with arrhythmogenic cardiomyopathy PMID: 20197793 - functional study which shown that the DSC2 p.Asp179Gly variant protein correctly colocalizes at the cell membrane with endogenous desmoglein in a transfected desmosome-forming cell line, indicating this variant has no impact on desmosome assembly |
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| Cardiomyopathy_Paediatric v1.147 | DSC2 | Richard Lin reviewed gene: DSC2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMIDs: 20197793, 24793512, 26310507; Phenotypes: Syndromic disease, MONDO:0002254, familial isolated arrhythmogenic right ventricular dysplasia, MONDO:0016342; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.0 | DSC2 | Gene migrated from ENSG00000134755 to ENSG00000134755 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.0 | DSC2 |
Zornitza Stark gene: DSC2 was added gene: DSC2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green Mode of inheritance for gene: DSC2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: DSC2 were set to Arrhythmogenic right ventricular dysplasia 11; Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair |
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