Pigmentary skin disordersGene: RIT1
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
NOONAN SYNDROME 8; NS8
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: RIT1; 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 NOONAN SYNDROME 8; NS8 for gene: RIT1 Publications for gene RIT1 were changed from to 23791108
Source London North GLH was added to RIT1.
gene: RIT1 was added gene: RIT1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: RIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RIT1 were set to Noonan syndrome 8, 615355