Genes in panel
STRs in panel
Prev Next

COVID-19 research

Gene: DNASE2

Green List (high evidence)

DNASE2 (deoxyribonuclease 2, lysosomal)
EnsemblGeneIds (GRCh38): ENSG00000105612
EnsemblGeneIds (GRCh37): ENSG00000105612
OMIM: 126350, Gene2Phenotype
DNASE2 is in 3 panels

4 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

Louise Daugherty (Genomics England Curator)

I don't know

Added publication referenced by IUIS december 2019 update
Created: 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 association
Created: 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 association
Created: 6 Jul 2018, 11:08 a.m.
Comment on publications: Added publications suggested from external expert review to support upgrading of the gene to Green
Created: 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 Interferonopathies
Created: 6 Jul 2018, 11:04 a.m.

Publications

Sophie Hambleton (Newcastle University)

Green List (high evidence)

2 affected siblings and one singleton; 3 hypomorphic variants; mouse model
Created: 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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • liver fibrosis
  • multisystem autoinflammatory syndrome
  • SLE
  • severe neonatal anemia
  • Autoinflammatory Disorders
  • deforming arthropathy
  • Glomerulonephritis, arthropathy, vasculitis
  • membranoproliferative glomerulonephritis
OMIM
126350
Clinvar variants
Variants in DNASE2
Penetrance
None
Publications
Panels with this gene

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: 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