COVID-19 research
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.
gene: VPS45 was added gene: VPS45 was added to Viral susceptibility. Sources: Expert Review Green,Victorian Clinical Genetics Services,North West GLH,Congenital neutropaenia v1.22,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: VPS45 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VPS45 were set to 23599270; 23738510 Phenotypes for gene: VPS45 were set to VPS45 deficiency (SCN5); Neutropenia, severe congenital 5; Congenital defects of phagocyte number or function; Extramedullary hematopoiesis, bone marrow fibrosis, nephromegaly; Neutropenia, severe congenital, 5, autosomal recessive, 615285