Primary immunodeficiency or monogenic inflammatory bowel disease
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 Glomerulonephritis, arthropathy, vasculitis; Autoinflammatory Disorders; multisystem autoinflammatory syndrome; severe neonatal anemia; membranoproliferative glomerulonephritis; liver fibrosis; deforming arthropathy; SLE to Autoinflammatory-pancytopenia syndrome, OMIM:619858
Publications for gene: DNASE2 were set to 29259162
Source NHS GMS was added to DNASE2.
Source North West GLH was added to DNASE2.
Source London North GLH was added to DNASE2.
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.
Gene: dnase2 has been classified as Green List (High Evidence).
Gene: dnase2 has been classified as Green List (High Evidence).
Gene: dnase2 has been classified as Green List (High Evidence).
Gene: dnase2 has been classified as Green List (High Evidence).
Publications for gene: DNASE2 were set to 29259162
Phenotypes for gene: DNASE2 were set to Glomerulonephritis, arthropathy, vasculitis; Autoinflammatory Disorders; multisystem autoinflammatory syndrome; severe neonatal anemia; membranoproliferative glomerulonephritis; liver fibrosis; deforming arthropathy; SLE
Mode of inheritance for gene: DNASE2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance for gene: DNASE2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene DNASE2 were set to Glomerulonephritis, arthropathy, vasculitis, Autoinflammatory Disorders
DNASE2 was added to Primary immunodeficiency disorders panel. Sources: IUIS Classification February 2018
DNASE2 was created by Louise Daugherty