Hydrops fetalis
Gene: RAF1

RAF1 (Raf-1 proto-oncogene, serine/threonine kinase)
EnsemblGeneIds (GRCh38): ENSG00000132155
EnsemblGeneIds (GRCh37): ENSG00000132155
OMIM: 164760, Gene2Phenotype
RAF1 is in 16 panels

1 review

Abhijit Kulkarni (Healius Pathology)

Green List (high evidence)

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

Created: 14 Apr 2022, 1:37 a.m.
Last Modified: 14 Apr 2022, 1:37 a.m.
Panel version: 0.254

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Noonan syndrome 5, MIM# 611553

OMIM

164760

Clinvar variants

Variants in RAF1

Penetrance

None

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

Panels with this gene