Primary lymphoedemaGene: RAF1
Comment on list classification: Based on recommendation from Sahar Mansour (St George's Hospital, London).
Created: 27 Jun 2019, 3:49 p.m. | Last Modified: 27 Jun 2019, 3:49 p.m.
Panel Version: 1.70
Green gene from RASopathies (Version 1.55)(https://panelapp.genomicsengland.co.uk/panels/48/). Gain of function variants cause LEOPARD syndrome 2 611554 and Noonan syndrome 5 611553
Created: 27 Jun 2019, 3:36 p.m. | Last Modified: 27 Jun 2019, 3:36 p.m.
Panel Version: 1.45
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
LEOPARD syndrome 2 611554; Noonan syndrome 5 611553
Publications for gene: RAF1 were set to
Gene: raf1 has been classified as Green List (High Evidence).
gene: RAF1 was added gene: RAF1 was added to Primary lymphoedema. Sources: Expert Review Mode of inheritance for gene: RAF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RAF1 were set to Noonan syndrome 5 611553; LEOPARD syndrome 2 611554 Mode of pathogenicity for gene: RAF1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments