Genomics England
GMS Panels
Panels
Genes and Entities

RAB27A

RAB27A, member RAS oncogene family
OMIM: 603868
PanelMode of inheritanceDetails
3 panels
Green
in Albinism or congenital nystagmus
R-numbers: R39
Signed-off version 4.12
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Griscelli syndrome, type 2 607624 AR
Green
in Pigmentary skin disorders
R-numbers: R236
Signed-off version 5.12
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Griscelli syndrome, type 2, OMIM:607624, Griscelli syndrome type 2, MONDO:0011872
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 9.91
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Griscelli syndrome, type 2 607624, Partial albinism, fever, HSM, HLH, cytopenias, Diseases of Immune Dysregulation