COVID-19 research
Gene: NHEJ1
NHEJ1 (non-homologous end joining factor 1)
EnsemblGeneIds (GRCh38): ENSG00000187736
EnsemblGeneIds (GRCh37): ENSG00000187736
OMIM: 611290, Gene2Phenotype
NHEJ1 is in 5 panels
EnsemblGeneIds (GRCh38): ENSG00000187736
EnsemblGeneIds (GRCh37): ENSG00000187736
OMIM: 611290, Gene2Phenotype
NHEJ1 is in 5 panels
8 reviews
Louise Daugherty (Genomics England Curator)
Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): NHEJ1 .PanelApp HGNC gene symbol check: NHEJ1 . IUIS Disease: Cernunnos/XLF deficiency . IUIS Inheritance: AR .T cells: N/A, .B cells: Very low, .IUIS Other affected cells: N/A. IUIS Associated features: Nl NK, radiation sensitive, microcephaly. IUIS Major category: Immunodeficiencies affecting cellular and humoral immunity. IUIS Subcategory: T-B- SCIDCreated: 2 Jul 2018, 10:35 a.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: Cernunnos, PanelApp HGNC gene symbol check: NHEJ1, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Combined immunodeficiencies / Combined immunodeficiency (CID) / Combined immunodeficiency; Combined immunodeficiencies / Severe combined immunodeficiency (SCID) / Cernunnos/XLF deficiencyCreated: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: NHEJ1, GRID_Gene_Symbol: NHEJ1, GRID_Transcript_ENS_Community submitted: ENST00000356853, GRID_Transcript_RefSeq: NM_024782.2, GRID_Transcript_ENS_used_on_Production: ENST00000356853Created: 17 Apr 2018, 12:12 p.m.
Sophie Hambleton (Newcastle University)
Tracy Briggs (Manchester Genomic Medicine Centre)
YES- this is covered on our targeted exomeCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Peter Arkwright (Royal Manchester Foundation Trust)
Christopher Duncan (Newcastle University)
Kimberly Gilmour (Great Ormond Street Hopsital)
agree with green geneCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Promoted from amber due to agreement from 5 reviewers.Created: 20 May 2016, 2:10 p.m.
William Rae (University Hospital Southampton NHS Foundation Trust)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- IUIS Classification February 2018
- SCID v1.6
- London North GLH
- GOSH PID v.8.0
- NHS GMS
- GRID V2.0
- Victorian Clinical Genetics Services
- North West GLH
- ESID Registry 20171117
- Combined B and T cell defect v1.12
- Expert Review Green
- NHS GMS
- North West GLH
- London North GLH
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
- Expert Review Green
- ESID Registry 20171117
- GRID V2.0
- GOSH PID v.8.0
- SCID v1.6
- Combined B and T cell defect v1.12
- Phenotypes
-
- Combined immunodeficiency
- Severe combined immunodeficiency with microcephaly, growth retardation and sensitivity to ionizing radiation, 611291
- Nl NK, radiation sensitive, microcephaly
- Immunodeficiencies affecting cellular and humoral immunity
- Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation
- T-B+ SCID
- Cernunnos/XLF deficiency
- T-B- SCID
- OMIM
- 611290
- Clinvar variants
- Variants in NHEJ1
- Penetrance
- None
- Panels with this gene
History Filter Activity
1 Apr 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: NHEJ1 was added gene: NHEJ1 was added to Viral susceptibility. Sources: Expert Review Green,Combined B and T cell defect v1.12,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,SCID v1.6,IUIS Classification February 2018 Mode of inheritance for gene: NHEJ1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NHEJ1 were set to Combined immunodeficiency; Severe combined immunodeficiency with microcephaly, growth retardation and sensitivity to ionizing radiation, 611291; Nl NK, radiation sensitive, microcephaly; Immunodeficiencies affecting cellular and humoral immunity; Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation; T-B+ SCID; Cernunnos/XLF deficiency; T-B- SCID