1. Panels
  2. Newborns main panel
  3. DNASE2
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Newborns main panel

Gene: DNASE2

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

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 29259162 - 2 familiesPMID: 31775019 - 1 case
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • DNASE2 deficiency
OMIM
126350
Clinvar variants
Variants in DNASE2
Penetrance
None
Panels with this gene

History Filter Activity

4 Oct 2023, Gel status: 2

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to DNASE2. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes DNASE2 deficiency for gene: DNASE2

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to DNASE2. Added phenotypes DNASE2 deficiency for gene: DNASE2 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to DNASE2. Added phenotypes DNASE2 deficiency for gene: DNASE2 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

15 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to DNASE2. Added phenotypes DNASE2 deficiency for gene: DNASE2 Rating Changed from No List (delete) to Green List (high evidence)

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: DNASE2 was added gene: DNASE2 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: DNASE2 was set to BIALLELIC, autosomal or pseudoautosomal