Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: VPS45
agree with green geneCreated: 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): VPS45 .PanelApp HGNC gene symbol check: VPS45 . IUIS Disease: VPS45 deficiency (SCN5) . IUIS Inheritance: AR , .B cells: N/A, .IUIS Other affected cells: N. IUIS Associated features: Extramedullary hematopoiesis, bone marrow fibrosis, nephromegaly . IUIS Major category: Congenital defects of phagocyte number or function. IUIS Subcategory: Congenital NeutropeniasCreated: 2 Jul 2018, 10:35 a.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: VPS45, GRID_Gene_Symbol: VPS45, GRID_Transcript_ENS_Community submitted: ENST00000369130, GRID_Transcript_RefSeq: NP_009190.2, GRID_Transcript_ENS_used_on_Production: ENST00000369130Created: 17 Apr 2018, 12:12 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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 when marking as ready: Found associated with phenotype in OMIM and not in G2P. Two expert reviewers recommend Green. Found in 1/4 sources. Literature reports two variants in >2 consanguineous Palestinian familiesCreated: 25 May 2016, 8:26 a.m.
Source NHS GMS was added to VPS45.
Source North West GLH was added to VPS45.
Source London North GLH was added to VPS45.
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 VPS45 were set to Neutropenia, severe congenital, 5, autosomal recessive, 615285, Neutropenia, severe congenital 5, VPS45 deficiency (SCN5), Extramedullary hematopoiesis, bone marrow fibrosis, nephromegaly, Congenital defects of phagocyte number or function
IUIS Classification February 2018 was added to VPS45. Panel: Primary immunodeficiency disorders
Victorian Clinical Genetics Services was added to VPS45. Panel: Primary immunodeficiency disorders
Gene: vps45 has been classified as Green List (High Evidence).
Phenotypes for gene: VPS45 were set to Neutropenia, severe congenital, 5, autosomal recessive, 615285; Neutropenia, severe congenital 5; VPS45 deficiency (SCN5)
Phenotypes for gene VPS45 were set to Neutropenia, severe congenital, 5, autosomal recessive, 615285, Neutropenia, severe congenital 5
GRID V2.0 was added to VPS45. Panel: Primary immunodeficiency disorders Phenotypes for gene VPS45 were set to Neutropenia, severe congenital, 5, autosomal recessive, 615285, Neutropenia, severe congenital 5
VPS45 was added to Primary immunodeficiency disorders panel. Sources: Expert Review Green, Congenital neutropaenia v1.22
VPS45 was created by Louise Daugherty