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GMS Immunology specialist test group-Vasculitis and Inflammation-LNGLH

Gene: DNASE1

Red List (low evidence)

DNASE1 (deoxyribonuclease 1)
EnsemblGeneIds (GRCh38): ENSG00000213918
EnsemblGeneIds (GRCh37): ENSG00000213918
OMIM: 125505, Gene2Phenotype
DNASE1 is in 0 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list for Vasculitis and Inflammation panel (VIP Consensus Genes for Panels 17.12.18.xlsx) collated by Lucy Jenkins, NE Thames Regional Genetics Laboratory, Great Ormond Street Hospital for Children NHS Foundation Trust December 2018 on behalf of London North GLH for the GMS Immunology specialist test group. Gene Symbol submitted: DNASE1; Suggested initial gene rating: Red List (low evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 152700; PMID(s): 152700; Comment: PanelApp panel name indicated if gene already present in Panelapp: none submitted
Created: 27 Feb 2019, 3:14 p.m.

Lucy Jenkins (North Thames GMC & North East Thames Regional Genetics Service)

Red List (low evidence)

Gene rating submitted by Lucy Jenkins, NE Thames Regional Genetics Laboratory, Great Ormond Street Hospital for Children NHS Foundation Trust December 2018 on behalf of London North GLH for the GMS Immunology specialist test group.
Created: 27 Feb 2019, 2:22 p.m.

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
  • London North GLH
Phenotypes
  • 152700
OMIM
125505
Clinvar variants
Variants in DNASE1
Penetrance
None
Publications
  • 152700
Panels with this gene

History Filter Activity

27 Feb 2019, Gel status: 1

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

Louise Daugherty (Genomics England Curator)

Source Expert Review Red was added to DNASE1. Mode of inheritance for gene DNASE1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes 152700 for gene: DNASE1 Publications for gene DNASE1 were changed from to 152700

27 Feb 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to DNASE1.

27 Feb 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: DNASE1 was added gene: DNASE1 was added to GMS Immunology specialist test group-Vasculitis and Inflammation-LNGLH. Sources: London North GLH Mode of inheritance for gene: DNASE1 was set to