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Immunological disorders_SuperPanel_PanelAppAustralia

Gene: DNASE2

Green List (high evidence)

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

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • liver fibrosis
  • HLH
  • Auto-inflammatory disorder
  • splenomegaly
  • glomerulonephritis
  • arthritis
OMIM
126350
Clinvar variants
Variants in DNASE2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Apr 2020, Gel status: 3

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

Rebecca Foulger (Genomics England curator)

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