COVID-19 research
Gene: DNASE2
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
Added publication referenced by IUIS december 2019 updateCreated: 28 Feb 2020, 8:49 p.m. | Last Modified: 28 Feb 2020, 8:49 p.m.
Panel Version: 2.36
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
Comment on list classification: Changed Red to Green from external review comment and further publications to support gene-disease associationCreated: 6 Jul 2018, 11:08 a.m.
Comment on list classification: Changed Red to Green from external review comment and further publications to support gene-disease associationCreated: 6 Jul 2018, 11:08 a.m.
Comment on publications: Added publications suggested from external expert review to support upgrading of the gene to GreenCreated: 6 Jul 2018, 11:06 a.m.
Comment on phenotypes: Added phenotypes suggested from external expert review.Created: 6 Jul 2018, 11:06 a.m.
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): DNASE2 .PanelApp HGNC gene symbol check: DNASE2 . IUIS Disease: DNASE2 deficiency . IUIS Inheritance: AR .T cells: N/A, .B cells: N/A, .IUIS Other affected cells: N/A. IUIS Associated features: Glomerulonephritis, arthropathy, vasculitis. IUIS Major category: Autoinflammatory Disorders. IUIS Subcategory: Type 1 InterferonopathiesCreated: 6 Jul 2018, 11:04 a.m.
Publications
2 affected siblings and one singleton; 3 hypomorphic variants; mouse modelCreated: 29 Jun 2018, 8:26 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
multisystem autoinflammatory syndrome; severe neonatal anemia; membranoproliferative glomerulonephritis; liver fibrosis; deforming arthropathy; SLE
Publications
Tag gene-checked was removed from gene: DNASE2.
Tag gene-checked tag was added to gene: DNASE2.
Phenotypes for gene: DNASE2 were changed from liver fibrosis; multisystem autoinflammatory syndrome; SLE; severe neonatal anemia; Autoinflammatory Disorders; deforming arthropathy; Glomerulonephritis, arthropathy, vasculitis; membranoproliferative glomerulonephritis to Autoinflammatory-pancytopenia syndrome, OMIM:619858
Publications for gene: DNASE2 were set to 29259162
gene: DNASE2 was added gene: DNASE2 was added to Viral susceptibility. Sources: Expert Review Green,North West GLH,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: DNASE2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNASE2 were set to 29259162 Phenotypes for gene: DNASE2 were set to liver fibrosis; multisystem autoinflammatory syndrome; SLE; severe neonatal anemia; Autoinflammatory Disorders; deforming arthropathy; Glomerulonephritis, arthropathy, vasculitis; membranoproliferative glomerulonephritis