Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: RAB27AComment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.Created: 14 Oct 2020, 1:43 p.m. | Last Modified: 14 Oct 2020, 1:43 p.m.
Panel Version: 2.300
The following PubMed IDs were added to gene RAB27A (OMIM gene MIM#603868): 24134793;10835631;16517541;9486701. These publications have been associated with the gene by the immunedysregulation subgroup of the Human Phenotype Ontology Immune Mediated Disorders Consortium (https://hpo-immune-mediated-disorders.groups.io/g/update) in August 2020.Created: 13 Oct 2020, 9:36 a.m. | Last Modified: 13 Oct 2020, 9:36 a.m.
Panel Version: 2.208
Publications
agree with green geneCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
YES- this is covered on our targeted exomeCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Comment on list classification: Associated with phenotype in OMIM and not in Gen2Phen. At least 10 variants identified in unrelated cases.Created: 9 May 2018, 2 p.m.
Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): RAB27A .PanelApp HGNC gene symbol check: RAB27A . IUIS Disease: Griscelli syndrome, type 2 . IUIS Inheritance: AR .T cells: N/A, .B cells: Normal, .IUIS Other affected cells: N/A. IUIS Associated features: Partial albinism, fever, HSM, HLH, cytopenias. IUIS Major category: Diseases of Immune Dysregulation. IUIS Subcategory: FHL Syndromes with HypopigmentationCreated: 2 Jul 2018, 10:35 a.m.
This gene was absent from the original PanelApp PID panel dataset (review April 2018). However it was listed in external expert immunodeficiency diagnostic gene list(s) GOSH or GRID. In this combined PID panel, this gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1.Created: 20 Apr 2018, 12:25 p.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: RAB27A, PanelApp HGNC gene symbol check: RAB27A, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Diseases of immune dysregulation / Hemophagocytic Lymphohistiocytosis (HLH) / Griscelli syndrome type 2Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: RAB27A, GRID_Gene_Symbol: RAB27A, GRID_Transcript_ENS_Community submitted: ENST00000396307, GRID_Transcript_RefSeq: NM_004580.4, GRID_Transcript_ENS_used_on_Production: ENST00000396307Created: 17 Apr 2018, 12:12 p.m.
Gene: rab27a has been classified as Green List (High Evidence).
Source Other was added to RAB27A. Publications for gene RAB27A were updated from 12058346; 12531900; 12522785; 15163896; 15163896 to 12531900; 9486701; 12058346; 10835631; 24134793; 12522785; 15163896; 16517541 Rating Changed from Green List (high evidence) to Red List (low evidence)
Source NHS GMS was added to RAB27A.
Source North West GLH was added to RAB27A.
Source London North GLH was added to RAB27A.
2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.
Phenotypes for gene RAB27A were set to Griscelli syndrome, type 2 607624, Partial albinism, fever, HSM, HLH, cytopenias, Diseases of Immune Dysregulation
IUIS Classification February 2018 was added to RAB27A. Panel: Primary immunodeficiency disorders
Victorian Clinical Genetics Services was added to RAB27A. Panel: Primary immunodeficiency disorders
Gene: rab27a has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for RAB27A were set to 12058346; 12531900; 12522785; 15163896; 15163896
Phenotypes for RAB27A were set to Griscelli syndrome, type 2 607624
Phenotypes for RAB27A were set to Griscelli syndrome, type 2
Expert Review Amber was added to RAB27A. Panel: Primary immunodeficiency disorders
ESID Registry 20171117 was added to RAB27A. Panel: Primary immunodeficiency disorders Phenotypes for gene RAB27A were set to Griscelli syndrome, type 2, Griscelli syndrome type 2
Phenotypes for gene RAB27A were set to Griscelli syndrome, type 2
GRID V2.0 was added to RAB27A. Panel: Primary immunodeficiency disorders Phenotypes for gene RAB27A were set to Griscelli syndrome, type 2
RAB27A Source: GOSH PID 20171183 was removed from gene: RAB27A
GOSH PID v.8.0 was added to RAB27A. Panel: Primary immunodeficiency disorders
RAB27A was added to Primary immunodeficiency disorders panel. Sources: GOSH PID 20171183
RAB27A was created by Louise Daugherty