Pigmentary skin disordersGene: RAF1
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
LEOPARD SYNDROME 2; LPRD2, NOONAN SYNDROME 5; NS5
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.
Added phenotypes LPRD2, NOONAN SYNDROME 5; LEOPARD SYNDROME 2; NS5 for gene: RAF1 Publications for gene RAF1 were changed from to 17603483
Source London North GLH was added to RAF1.
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)