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COVID-19 research

Gene: DNASE1L3

Green List (high evidence)

DNASE1L3 (deoxyribonuclease 1 like 3)
EnsemblGeneIds (GRCh38): ENSG00000163687
EnsemblGeneIds (GRCh37): ENSG00000163687
OMIM: 602244, Gene2Phenotype
DNASE1L3 is in 3 panels

4 reviews

Kimberly Gilmour (Great Ormond Street Hopsital)

I don't know

agree with all the Amber genes
Created: 25 Sep 2019, 1:49 p.m. | Last Modified: 25 Sep 2019, 1:49 p.m.
Panel Version: 1.115

Tracy Briggs (Manchester Genomic Medicine Centre)

I don't know

The amber genes are covered on our targeted exome, we feel that these should be covered in the testing
Created: 25 Sep 2019, 1:44 p.m. | Last Modified: 25 Sep 2019, 1:44 p.m.
Panel Version: 1.114

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
SLE in Arab families (6 but consistent with founder effect)
Created: 26 Sep 2019, 3:52 p.m. | Last Modified: 26 Sep 2019, 3:52 p.m.
Panel Version: 1.130
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 only enough evidence to rate this gene Amber.
Created: 25 Sep 2019, 3 p.m. | Last Modified: 25 Sep 2019, 3 p.m.
Panel Version: 1.116
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 only enough evidence to rate this gene Amber
Created: 25 Sep 2019, 3 p.m. | Last Modified: 25 Sep 2019, 3 p.m.
Panel Version: 1.116
Comment on list classification: Amber rating not Green rating. From clinical review it was noted that this is a single variant with a founder effect so amber rating as there
is no confirmatory evidence that the variant/gene is causative (other cases or functional data). Also not sure that the SLE phenotype is the best fit for the PID panel
Created: 6 Jul 2018, 4:09 p.m.
added deletions tag. Although a deletion, it is small (1bp) so is reportable with current pipeline
Created: 6 Jul 2018, 10:56 a.m.
Comment on list classification: Changed Amber to Green.
Created: 6 Jul 2018, 10:54 a.m.
added founder effect tag
Created: 6 Jul 2018, 10:52 a.m.
From PMID Al-Mayouf et al. (2011) PMID: 22019780 identified homozygosity for a 1-bp deletion (643delT) in the DNASE1L3 gene in 6 affected members of consanguineous Arab families with systemic lupus erythematosus. The mutation segregated perfectly with the disease state in a strictly mendelian, fully penetrant, and autosomal recessive fashion in all 6 families, and was not found in 192 ethnically matched controls. Haplotype analysis confirmed this to be a founder mutation. In lymphoblast cell lines from 2 patients, no DNASE1L3 transcript was detected, and tissue culture studies demonstrated that mutant DNASE1L3 completely lacks DNase activity.
Created: 6 Jul 2018, 10:52 a.m.
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): DNASE1L3 .PanelApp HGNC gene symbol check: DNASE1L3 . IUIS Disease: DNASE1L3 deficiency . IUIS Inheritance: AR .T cells: N/A, .B cells: N/A, .IUIS Other affected cells: N/A. IUIS Associated features: Systemic lupus erythematosus, lupus nephritis, hypocomplementemic urticarial vasculitis. IUIS Major category: Diseases of Immune Dysregulation. IUIS Subcategory: Autoimmunity with or without Lymphoproliferation
Created: 6 Jul 2018, 10:48 a.m.

Publications

Sophie Hambleton (Newcastle University)

I don't know

one variant described, 6 families
Created: 29 Jun 2018, 8:18 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
familial early-onset SLE

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Systemic lupus erythematosus 16, 614420
  • Autoinflammatory Disorders
  • Diseases of Immune Dysregulation
  • familial early-onset SLE
  • Systemic lupus erythematosus, lupus nephritis, hypocomplementemic urticarial vasculitis
OMIM
602244
Clinvar variants
Variants in DNASE1L3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Apr 2020, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Ellen McDonagh (Genomics England Curator)

Source Expert Review Green was added to DNASE1L3. Added phenotypes Systemic lupus erythematosus 16, 614420; Autoinflammatory Disorders; Diseases of Immune Dysregulation; familial early-onset SLE; Systemic lupus erythematosus, lupus nephritis, hypocomplementemic urticarial vasculitis for gene: DNASE1L3 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

1 Apr 2020, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: DNASE1L3 was added gene: DNASE1L3 was added to Viral susceptibility. Sources: North West GLH,NHS GMS,London North GLH,IUIS Classification December 2019,IUIS Classification February 2018,Expert Review Amber Mode of inheritance for gene: DNASE1L3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNASE1L3 were set to 27821515; 23666765; 22019780; 32086639; 32048120 Phenotypes for gene: DNASE1L3 were set to Systemic lupus erythematosus 16, 614420; Autoinflammatory Disorders; Diseases of Immune Dysregulation; familial early-onset SLE; Systemic lupus erythematosus, lupus nephritis, hypocomplementemic urticarial vasculitis