Vici Syndrome and other autophagy disorders
Gene: RAB27A
RAB27A (RAB27A, member RAS oncogene family)
EnsemblGeneIds (GRCh38): ENSG00000069974
EnsemblGeneIds (GRCh37): ENSG00000069974
OMIM: 603868, Gene2Phenotype
RAB27A is in 6 panels
EnsemblGeneIds (GRCh38): ENSG00000069974
EnsemblGeneIds (GRCh37): ENSG00000069974
OMIM: 603868, Gene2Phenotype
RAB27A is in 6 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Added the 'deletions' tag to indicate that along with small variants, large deletions have been reported.Created: 31 Jul 2017, 10:01 a.m.
Olivia Niblock (Genomics England Curator)
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.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Griscelli syndrome 2
- Elejalde syndrome
- Griscelli syndrome, type 2 (OMIM)
- Tags
- OMIM
- 603868
- Clinvar variants
- Variants in RAB27A
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
31 Jul 2017, Gel status: 4
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)31st July 2017: Panel revised according to external review and input, further curation and internal clinical input.
3 Jul 2017, Gel status: 4
Set publications
Olivia Niblock (Genomics England Curator)Publications for RAB27A were set to 26927810; 28585352; 28484936; 28357189; 25500851; 25312756; 24678334; 21314004; 20591709; 18489042
3 Jul 2017, Gel status: 4
Gene classified by Genomics England curator
Olivia Niblock (Genomics England Curator)This gene has been classified as Green List (High Evidence).
29 Apr 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)RAB27A was added to Vici Syndrome and other autophagy disorderspanel. Sources: Literature
29 Apr 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)RAB27A was created by ellenmcdonagh