Primary lymphoedema

Gene: RAF1

Green List (high evidence)

RAF1 (Raf-1 proto-oncogene, serine/threonine kinase)
EnsemblGeneIds (GRCh38): ENSG00000132155
EnsemblGeneIds (GRCh37): ENSG00000132155
OMIM: 164760, Gene2Phenotype
RAF1 is in 19 panels

2 reviews

Sarah Leigh (Genomics England Curator)

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

Sahar Mansour (St George's Hospital, London)

Green List (high evidence)

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

Phenotypes
LEOPARD syndrome 2 611554; Noonan syndrome 5 611553

Publications

History Filter Activity

27 Jun 2019, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: RAF1 were set to

27 Jun 2019, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: raf1 has been classified as Green List (High Evidence).

27 Jun 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes, Set mode of pathogenicity

Sarah Leigh (Genomics England Curator)

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