Cardiomyopathies - including childhood onsetGene: BRAF
OMIM#211980; Adenocarcinoma of lung, somatic; OMIM#115150 Cardiofaciocutaneous syndrome; OMIM#613707 Colorectal cancer, somatic; OMIM#613707 LEOPARD syndrome 3; OMIM# Melanoma, malignant, somatic; Nonsmall cell lung cancer, somatic; OMIM#613706 Noonan syndrome 7.
Created: 25 Mar 2019, 4:30 p.m.
Rasopathy gene. HCM reported in Cardiofaciocutaneous syndrome and other heart defects in Leopard Syndrome.
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 BRAF.
Source South West GLH was added to BRAF.
Checked against the component panels and ready to promote to version 1.
Added phenotypes syndromic HCM for gene: BRAF
gene: BRAF was added gene: BRAF was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green Mode of inheritance for gene: BRAF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BRAF were set to PMID: 19206169; 21396583 Phenotypes for gene: BRAF were set to Noonan Syndrome; Cardio-facio-cutaneous syndrome; LEOPARD Syndrome; LEOPARD syndrome 3; Cardiofaciocutaneous Syndrome Mode of pathogenicity for gene: BRAF was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments