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Newborns main panel

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

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
https://search.clinicalgenome.org/kb/genes/HGNC:9766
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Griscelli syndrome, type 2
OMIM
603868
Clinvar variants
Variants in RAB27A
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Griscelli syndrome, type 2 for gene: RAB27A

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Griscelli syndrome, type 2 for gene: RAB27A

31 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Griscelli syndrome, type 2 for gene: RAB27A

15 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to RAB27A. Added phenotypes Griscelli syndrome, type 2 for gene: RAB27A Rating Changed from No List (delete) to Green List (high evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to RAB27A. Rating Changed from Green List (high evidence) to No List (delete)

9 Mar 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Griscelli syndrome, type 2 for gene: RAB27A

9 Mar 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: RAB27A was added gene: RAB27A was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: RAB27A was set to BIALLELIC, autosomal or pseudoautosomal