GMS Immunology specialist test group-Vasculitis and Inflammation-LNGLH
Gene: DNASE1EnsemblGeneIds (GRCh38): ENSG00000213918
EnsemblGeneIds (GRCh37): ENSG00000213918
OMIM: 125505, Gene2Phenotype
DNASE1 is in 0 panels
2 reviews
Louise Daugherty (Genomics England Curator)
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 submittedCreated: 27 Feb 2019, 3:14 p.m.
Lucy Jenkins (North Thames GMC & North East Thames Regional Genetics Service)
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
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
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to DNASE1.
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