Activity

Filter

Cancel
Date Panel Item Activity
4 actions
Paediatric or syndromic cardiomyopathy v0.16 HRAS Ivone Leong reviewed gene: HRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.15 HRAS Ivone Leong Source NHS GMS was added to HRAS.
Paediatric or syndromic cardiomyopathy v0.4 HRAS Ivone Leong Source Expert List was added to HRAS.
Mode of pathogenicity for gene HRAS was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Added phenotypes Costello syndrome for gene: HRAS
Publications for gene HRAS were changed from PMID: 16170316; 21396583; 16969868; 16443854 to 16170316; 16443854; 21396583; 16969868
Paediatric or syndromic cardiomyopathy v0.1 HRAS Ivone Leong gene: HRAS was added
gene: HRAS was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH
Mode of inheritance for gene: HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HRAS were set to PMID: 16170316; 21396583; 16969868; 16443854
Phenotypes for gene: HRAS were set to Costello syndrome; syndromic HCM