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  3. RAB27A
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Pigmentary skin disorders

Gene: RAB27A

Green List (high evidence)
RAB27A (RAB27A, member RAS oncogene family)
EnsemblGeneIds (GRCh38): ENSG00000069974
EnsemblGeneIds (GRCh37): ENSG00000069974
OMIM: 603868, Gene2Phenotype
RAB27A is in 6 panels

2 reviews

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
GRISCELLI SYNDROME, TYPE 2; GS2

Publications

Created: 12 Dec 2019, 12:23 p.m.
Last Modified: 12 Dec 2019, 12:23 p.m.
Panel version: 0.25

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: RAB27A; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 31 Jan 2019, 11:31 a.m.
Created: 31 Jan 2019, 11:31 a.m.

Panel version: 0.4

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • GS2
  • GRISCELLI SYNDROME, TYPE 2
  • Griscelli syndrome
OMIM
603868
Clinvar variants
Variants in RAB27A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Dec 2019, Gel status: 3

Set Phenotypes, Set publications

Catherine Snow (Genomics England)

Added phenotypes GS2; GRISCELLI SYNDROME, TYPE 2 for gene: RAB27A Publications for gene RAB27A were changed from to 10835631

18 Feb 2019, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to RAB27A.

31 Jan 2019, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: RAB27A was added gene: RAB27A was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: RAB27A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RAB27A were set to Griscelli syndrome