Pigmentary skin disordersGene: RAB27A
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
GRISCELLI SYNDROME, TYPE 2; GS2
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: RAB27A; 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 GS2; GRISCELLI SYNDROME, TYPE 2 for gene: RAB27A Publications for gene RAB27A were changed from to 10835631
Source London North GLH was added to RAB27A.
gene: RAB27A was added gene: RAB27A was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: RAB27A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RAB27A were set to Griscelli syndrome