Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: VPS13B
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
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): VPS13B .PanelApp HGNC gene symbol check: VPS13B . IUIS Disease: Cohen syndrome . IUIS Inheritance: AR , .B cells: N/A, .IUIS Other affected cells: N. IUIS Associated features: Dysmorphism, mental retardation, obesity, deafness, neutropenia. IUIS Major category: Congenital defects of phagocyte number or function. IUIS Subcategory: Congenital NeutropeniasCreated: 2 Jul 2018, 10:35 a.m.
Comment on publications: Added publications suggested fto support upgrading of the gene to GreenCreated: 13 Jun 2018, 1:49 p.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: COH1, PanelApp HGNC gene symbol check: VPS13B, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Phagocytic disorders / COHEN syndrome / COHEN syndromeCreated: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: VPS13B, GRID_Gene_Symbol: VPS13B, GRID_Transcript_ENS_Community submitted: ENST00000358544, GRID_Transcript_RefSeq: NM_017890.4, GRID_Transcript_ENS_used_on_Production: ENST00000358544Created: 17 Apr 2018, 12:12 p.m.
Cyclical neutropaenia is a feature of Cohen syndrome, along with other syndromic associations including retinal dystrophy, ID, obesity.Created: 19 Sep 2017, 12:07 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cohen syndrome 216550
Source NHS GMS was added to VPS13B.
Source North West GLH was added to VPS13B.
Source London North GLH was added to VPS13B.
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 VPS13B were set to Cohen syndrome, 216550, Cohen syndrome, Dysmorphism, mental retardation, obesity, deafness, neutropenia, Congenital defects of phagocyte number or function
IUIS Classification February 2018 was added to VPS13B. Panel: Primary immunodeficiency disorders
Victorian Clinical Genetics Services was added to VPS13B. Panel: Primary immunodeficiency disorders
Gene: vps13b has been classified as Green List (High Evidence).
Publications for gene: VPS13B were set to 12730828; 15154116; 15211651; 20461111; 24311531
Phenotypes for VPS13B were set to Cohen syndrome, 216550; Cohen syndrome
Phenotypes for VPS13B were set to Cohen syndrome, 216550; Cohen syndrome
ESID Registry 20171117 was added to VPS13B. Panel: Primary immunodeficiency disorders Phenotypes for gene VPS13B were set to Cohen syndrome 216550, Cohen syndrome, COHEN syndrome
Phenotypes for gene VPS13B were set to Cohen syndrome 216550, Cohen syndrome
GRID V2.0 was added to VPS13B. Panel: Primary immunodeficiency disorders Phenotypes for gene VPS13B were set to Cohen syndrome 216550, Cohen syndrome
VPS13B was added to Primary immunodeficiency disorders panel. Sources: Expert Review Green, Congenital neutropaenia v1.22
VPS13B was created by Louise Daugherty