Disorders of immune dysregulation
Gene: RAB27A

RAB27A (RAB27A, member RAS oncogene family)
EnsemblGeneIds (GRCh38): ENSG00000069974
EnsemblGeneIds (GRCh37): ENSG00000069974
OMIM: 603868, Gene2Phenotype
RAB27A is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Over 20 individuals reported with bi-allelic variants in this gene and various degrees of skin hypopigmentation and a silvery-gray sheen of the hair with large pigment aggregates in hair shafts. In all, at least 1 episode of haemophagocytic syndrome occurred, characterised by acute onset of uncontrolled lymphocyte and macrophage activation, resulting in infiltration and haemophagocytosis in multiple organs. Supportive mouse model.
Created: 18 Oct 2020, 6:35 a.m. | Last Modified: 18 Oct 2020, 6:35 a.m.

Panel Version: 0.64

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Griscelli syndrome, type 2, MIM# 607624

Publications

Created: 18 Oct 2020, 6:35 a.m.
Last Modified: 18 Oct 2020, 6:35 a.m.
Panel version: 0.64

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Melbourne Genomics Health Alliance Immunology Flagship
Victorian Clinical Genetics Services

Phenotypes

Griscelli syndrome, type 2, MIM# 607624

OMIM

603868

Clinvar variants

Variants in RAB27A

Penetrance

None

Publications

Panels with this gene