1. Panels
  2. Congenital nystagmus
  3. RAB27A
STRs in panel
Prev Next
Regions in panel
Prev Next

Congenital nystagmus

Gene: RAB27A

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Partial albinism and immunodeficiency, resembling Hermansky-Pudlak syndrome, but primarily affecting skin and hair colouration rather than eyes.
Created: 27 Oct 2021, 1:55 a.m. | Last Modified: 27 Oct 2021, 1:55 a.m.
Panel Version: 0.96

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Griscelli syndrome, type 2 MIM#607624

Created: 27 Oct 2021, 1:55 a.m.
Last Modified: 27 Oct 2021, 1:55 a.m.
Panel version: 0.96

Belinda Chong (Victorian Clinical Genetics Services)

Red List (low evidence)

Neurological deterioration secondary to haemophagocytic syndrome.
Created: 26 Oct 2021, 12:12 a.m. | Last Modified: 26 Oct 2021, 12:12 a.m.
Panel Version: 0.89

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Griscelli syndrome, type 2 MIM#607624

Variants in this GENE are reported as part of current diagnostic practice

Created: 26 Oct 2021, 12:12 a.m.
Last Modified: 26 Oct 2021, 12:12 a.m.
Panel version: 0.89

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
  • NHS Genomic Medicine Service
Phenotypes
  • Griscelli syndrome, type 2 607624 AR
OMIM
603868
Clinvar variants
Variants in RAB27A
Penetrance
None
Panels with this gene

History Filter Activity

27 Oct 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rab27a has been classified as Red List (Low Evidence).

27 Oct 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rab27a has been classified as Red List (Low Evidence).

6 Oct 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Added phenotypes Griscelli syndrome, type 2 607624 AR for gene: RAB27A

6 Oct 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RAB27A was added gene: RAB27A was added to Albinism or congenital nystagmus. Sources: Expert Review Green,NHS Genomic Medicine Service,Genomics England PanelApp 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