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Severe Paediatric Disorders

Gene: DNASE2

Green List (high evidence)

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

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: DNASE2; Recommended initial gene rating: Green List (high evidence); Phenotypes: Rheumatoid arthritis; Mode of inheritance: Autosomal recessive
Created: 20 Feb 2020, 5:18 p.m. | Last Modified: 20 Feb 2020, 5:18 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Autoinflammatory-pancytopenia syndrome, OMIM:619858
OMIM
126350
Clinvar variants
Variants in DNASE2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Jun 2022, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: DNASE2 were changed from Rheumatoid arthritis to Autoinflammatory-pancytopenia syndrome, OMIM:619858

21 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene DNASE2 was changed from to BIALLELIC, autosomal or pseudoautosomal