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  3. DNASE2
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Autoinflammatory Disorders

Gene: DNASE2

Green List (high evidence)
DNASE2 (deoxyribonuclease 2, lysosomal)
EnsemblGeneIds (GRCh38): ENSG00000105612
EnsemblGeneIds (GRCh37): ENSG00000105612
OMIM: 126350, Gene2Phenotype
DNASE2 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Inflammatory disorder characterized by splenomegaly, glomerulonephritis, liver fibrosis, circulating anti-DNA autoantibodies, and progressive arthritis. Three families and functional data.
Sources: Expert list
Created: 9 Jan 2020, 12:03 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Autoinflammatory-pancytopaenia syndrome, MIM# 619858

Publications

Created: 9 Jan 2020, 12:03 a.m.

Panel version: 0.146

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Autoinflammatory-pancytopaenia syndrome, MIM# 619858
OMIM
126350
Clinvar variants
Variants in DNASE2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 May 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DNASE2 were changed from Auto-inflammatory disorder; splenomegaly; glomerulonephritis; liver fibrosis; arthritis; HLH to Autoinflammatory-pancytopaenia syndrome, MIM# 619858

9 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dnase2 has been classified as Green List (High Evidence).

9 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dnase2 has been classified as Green List (High Evidence).

9 Jan 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DNASE2 was added gene: DNASE2 was added to Systemic autoinflammatory disease, Periodic fever_MelbourneGenomics_VCGS. Sources: Expert list Mode of inheritance for gene: DNASE2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNASE2 were set to 29259162; 31775019 Phenotypes for gene: DNASE2 were set to Auto-inflammatory disorder; splenomegaly; glomerulonephritis; liver fibrosis; arthritis; HLH Review for gene: DNASE2 was set to GREEN