Previous cardiomyopathies - including childhood onset
Gene: MAP2K1
Cardiofaciocutaneous syndrome 3 OMIM#615279Created: 25 Mar 2019, 4:30 p.m.
Variants in HGMD associated with Cardio-facio-cutaneous syndrome, Noonan and Costello syndrome. Paediatric onset: Kaski Circ Cardiovasc Genet. 2012;5:317-326.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 MAP2K1.
Source South West GLH was added to MAP2K1.
Eleanor Williams: Comment on publications: Addin
Added phenotypes syndromic HCM for gene: MAP2K1
gene: MAP2K1 was added gene: MAP2K1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green Mode of inheritance for gene: MAP2K1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAP2K1 were set to PMID: 21396583; 23321623 (publication referring to Noonan syndrome association). Phenotypes for gene: MAP2K1 were set to LEOPARD syndrome; Cardiofaciocutaneous Syndrome; Cardio-Facio-Cutaneous syndrome; CFC syndrome; Cardiofaciocutaneous syndrome 3; ?Noonan syndrome Mode of pathogenicity for gene: MAP2K1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments