Previous cardiomyopathies - including childhood onset
Gene: KRAS
Cardiofaciocutaneous syndrome 2 OMIM#615278; Noonan syndrome 3 OMIM#609942 AD 3 RAS-associated autoimmune leukoproliferative disorder OMIM#614470 includes also a number of somatic cancers.Created: 25 Mar 2019, 4:30 p.m.
Not listed with cardiomyopathies. Through OMIM clinical synopsis - HCM occurs but many other cardiac features including CHD. Not a major feature . HGMD has many phenotypes associated including a variety of cancers. Rasopathy gene - childhood onset and denovo variants reported Stark Clin Genet. 2012 Jun;81(6):590-4.Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
Source London South GLH was added to KRAS.
Source South West GLH was added to KRAS.
Eleanor Williams: Comment on publications: Addin
gene: KRAS was added gene: KRAS was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green Mode of inheritance for gene: KRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KRAS were set to PMID: 21396583 Phenotypes for gene: KRAS were set to Cardiofaciocutaneous syndrome 2; Cardiofaciocutaneous Syndrome; Cardio-Facio-Cutaneous syndrome; Noonan syndrome 3; Noonan syndrome; CFC syndrome Mode of pathogenicity for gene: KRAS was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments