Pigmentary skin disorders

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

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: RAF1; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 31 Jan 2019, 11:31 a.m.

History Filter Activity

18 Feb 2019, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to RAF1.

31 Jan 2019, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: RAF1 was added gene: RAF1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: RAF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RAF1 were set to Noonan syndrome; Noonan syndrome with lentigines (LEOPARD)