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STRs in panel
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COVID-19 research

Gene: VPS13B

Green List (high evidence)

VPS13B (vacuolar protein sorting 13 homolog B)
EnsemblGeneIds (GRCh38): ENSG00000132549
EnsemblGeneIds (GRCh37): ENSG00000132549
OMIM: 607817, Gene2Phenotype
VPS13B is in 14 panels

5 reviews

Kimberly Gilmour (Great Ormond Street Hopsital)

Green List (high evidence)

agree with green gene
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Tracy Briggs (Manchester Genomic Medicine Centre)

Green List (high evidence)

YES- this is covered on our targeted exome
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

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 Neutropenias
Created: 2 Jul 2018, 10:35 a.m.
Comment on publications: Added publications suggested fto support upgrading of the gene to Green
Created: 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 syndrome
Created: 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: ENST00000358544
Created: 17 Apr 2018, 12:12 p.m.

Helen Brittain (Genomics England Curator)

Green List (high evidence)

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

History Filter Activity

1 Apr 2020, Gel status: 3

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

Ellen McDonagh (Genomics England Curator)

gene: VPS13B was added gene: VPS13B was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,Congenital neutropaenia v1.22,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: VPS13B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VPS13B were set to 24311531; 15211651; 12730828; 20461111; 15154116 Phenotypes for gene: VPS13B were set to Cohen syndrome, 216550; Congenital defects of phagocyte number or function; Dysmorphism, mental retardation, obesity, deafness, neutropenia; Cohen syndrome