Albinism or congenital nystagmus
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
1 review
Ivone Leong (Genomics England Curator)
Initial gene list and info collated by Jonathan Callaway (Wessex Regional Genetics Laboratory) February 2019. Suggested intial gene rating: Green; Comments provided: Comments from OMIM: Griscelli syndrome is a rare autosomal recessive disorder that results in pigmentary dilution of the skin and the hair (silver hair), the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes. Comments from HGMDpro: STRONG EVIDENCE: 54 variants listed, most have Griscelli syndrome as the reported phenotype, including numerous LOF variants.Created: 13 Feb 2019, 11:41 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Griscelli syndrome, type 2 607624 AR
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Griscelli syndrome, type 2 607624 AR
- OMIM
- 603868
- Clinvar variants
- Variants in RAB27A
- Penetrance
- None
- Panels with this gene
History Filter Activity
20 Mar 2019, Gel status: 3
Set Phenotypes, Status Update
Ivone Leong (Genomics England Curator)Added phenotypes Griscelli syndrome, type 2 607624 AR for gene: RAB27A Rating Changed from Green List (high evidence) to Green List (high evidence)
13 Feb 2019, Gel status: 3
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: rab27a has been classified as Green List (High Evidence).
13 Feb 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: RAB27A was added gene: RAB27A was added to Albinism or congenital nystagmus. Sources: Expert list Mode of inheritance for gene: RAB27A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RAB27A were set to Griscelli syndrome, type 2 607624 AR