Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 |