Growth failure in early childhood
Gene: BRAF
Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that genes associated with RASopathies should be included on this panel, excluding NF1. Therefore kept on the panel as a Green gene.Created: 30 May 2019, 9:54 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
LEOPARD Syndrome; Noonan Syndrome; Cardiofaciocutaneous Syndrome; LEOPARD syndrome 3; Cardio-facio-cutaneous syndrome
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Phenotypes for gene: BRAF were changed from LEOPARD syndrome 3; LEOPARD Syndrome; Cardiofaciocutaneous syndrome; Cardiofaciocutaneous Syndrome; Cardio-facio-cutaneous syndrome; Noonan Syndrome to Cardiofaciocutaneous syndrome, OMIM:115150; LEOPARD syndrome 3, OMIM:613707; Noonan syndrome 7, OMIM:613706
Publications for gene: BRAF were set to 16825433, 16474404; 19206169; 21396583
Publications for gene: BRAF were set to 16825433, 16474404
Mode of pathogenicity for gene BRAF 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 Cardiofaciocutaneous Syndrome; LEOPARD Syndrome; Cardio-facio-cutaneous syndrome; Noonan Syndrome; LEOPARD syndrome 3 for gene: BRAF
gene: BRAF was added gene: BRAF was added to Growth failure in early childhood. 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 16825433, 16474404 Phenotypes for gene: BRAF were set to Cardiofaciocutaneous syndrome