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Cardiomyopathy_Paediatric v0.138 | CDH2 | Zornitza Stark Marked gene: CDH2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cardiomyopathy_Paediatric v0.138 | CDH2 | Zornitza Stark Gene: cdh2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cardiomyopathy_Paediatric v0.138 | CDH2 | Zornitza Stark Phenotypes for gene: CDH2 were changed from to Arrhythmogenic right ventricular dysplasia, familial, 14, OMIM#618920 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cardiomyopathy_Paediatric v0.137 | CDH2 | Zornitza Stark Publications for gene: CDH2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cardiomyopathy_Paediatric v0.136 | CDH2 | Zornitza Stark Mode of inheritance for gene: CDH2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cardiomyopathy_Paediatric v0.135 | CDH2 | Zornitza Stark Classified gene: CDH2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cardiomyopathy_Paediatric v0.135 | CDH2 | Zornitza Stark Gene: cdh2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cardiomyopathy_Paediatric v0.134 | CDH2 |
Zornitza Stark changed review comment from: Several South African families reported, where missense variants segregate with ARVC. Two different variants reported. Rated as LIMITED by ClinGen.; to: Several South African families reported, where missense variants segregate with ARVC. Two different variants reported. Rated as LIMITED by ClinGen. Some presented in adolescence. |
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Cardiomyopathy_Paediatric v0.134 | CDH2 | Zornitza Stark reviewed gene: CDH2: Rating: AMBER; Mode of pathogenicity: None; Publications: 28280076; Phenotypes: Arrhythmogenic right ventricular dysplasia, familial, 14, OMIM#618920; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cardiomyopathy_Paediatric v0.0 | CDH2 |
Zornitza Stark gene: CDH2 was added gene: CDH2 was added to Cardiomyopathy_Paediatric. Sources: Expert list,Expert Review Green Mode of inheritance for gene: CDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |