Hydrops fetalis
Gene: RAF1
Association with Rasopathy is well established, >20 individuals reported.
NS patients with a RAF1 mutation have 2 hotspots (clustering around ser259 or ser612),Created: 14 Apr 2022, 1:37 a.m. | Last Modified: 14 Apr 2022, 1:37 a.m.
Panel Version: 0.254
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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
Gene: raf1 has been classified as Green List (High Evidence).
Phenotypes for gene: RAF1 were changed from to Noonan syndrome 5, MIM# 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
Mode of inheritance for gene: RAF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
gene: RAF1 was added gene: RAF1 was added to Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RAF1 was set to Unknown