Growth failure in early childhood
Gene: RAF1
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
Noonan syndrome; Noonan syndrome 5; LEOPARD syndrome; LEOPARD syndrome 2
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: RAF1 were changed from Rasopathy; Noonan syndrome; LEOPARD syndrome 2; Noonan syndrome 5; LEOPARD syndrome to LEOPARD syndrome 2, OMIM:611554; Noonan syndrome 5, OMIM:611553
Publications for gene: RAF1 were set to
Mode of pathogenicity for gene RAF1 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 Noonan syndrome; LEOPARD syndrome; LEOPARD syndrome 2; Noonan syndrome 5 for gene: RAF1
gene: RAF1 was added gene: RAF1 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: RAF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RAF1 were set to Rasopathy