Vici Syndrome and other autophagy disordersGene: RAB27A
Added the 'deletions' tag to indicate that along with small variants, large deletions have been reported.
Created: 31 Jul 2017, 10:01 a.m.
Comment on list classification: Mutations in RAB27A are noted in Radboud and Illumina databases to be linked to Griscelli syndrome, type 2. This is further supported by the inclusion of RAB27A in the Lysosomal Storage Disorders panel in Emory and the Primary Immune Deficiencies panel in UKGTN.
Literature search uncovered many more than 3 unrelated cases citing mutations in RAB27A as a causative variant in Griscelli syndrome, type 2. It is important to note that several papers, whilst highlighting point mutations in the gene, also highlight that there have been large deletions affecting this gene documented.
Created: 3 Jul 2017, 9:15 a.m.
31st July 2017: Panel revised according to external review and input, further curation and internal clinical input.
Publications for RAB27A were set to 26927810; 28585352; 28484936; 28357189; 25500851; 25312756; 24678334; 21314004; 20591709; 18489042
This gene has been classified as Green List (High Evidence).
RAB27A was added to Vici Syndrome and other autophagy disorderspanel. Sources: Literature
RAB27A was created by ellenmcdonagh