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Primary immunodeficiency

Gene: NHEJ1

Green List (high evidence)

NHEJ1 (non-homologous end joining factor 1)
EnsemblGeneIds (GRCh38): ENSG00000187736
EnsemblGeneIds (GRCh37): ENSG00000187736
OMIM: 611290, Gene2Phenotype
NHEJ1 is in 6 panels

9 reviews

Eleanor Williams (Genomics England Curator)

Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Created: 14 Oct 2020, 1:35 p.m. | Last Modified: 14 Oct 2020, 1:35 p.m.
Panel Version: 2.284
The following PubMed IDs were added to gene NHEJ1 (OMIM gene MIM#611290): 20113890;16439204. These publications have been associated with the gene by the immunodeficiencies subgroup of the Human Phenotype Ontology Immune Mediated Disorders Consortium (https://hpo-immune-mediated-disorders.groups.io/g/update) in August 2020.
Created: 13 Oct 2020, 9:36 a.m. | Last Modified: 13 Oct 2020, 9:36 a.m.
Panel Version: 2.208

Publications

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

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- SCID
Created: 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 deficiency
Created: 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: ENST00000356853
Created: 17 Apr 2018, 12:12 p.m.

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Tracy Briggs (Manchester Genomic Medicine Centre)

Green List (high evidence)

YES- this is covered on our targeted exome
Created: 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)

Green List (high evidence)

Christopher Duncan (Newcastle University)

Green List (high evidence)

Kimberly Gilmour (Great Ormond Street Hopsital)

Green List (high evidence)

agree with green gene
Created: 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)

Green List (high evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • GRID V2.0
  • GOSH PID v.8.0
  • SCID v1.6
  • Combined B and T cell defect v1.12
Phenotypes
  • Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation
  • Severe combined immunodeficiency with microcephaly, growth retardation and sensitivity to ionizing radiation, 611291
  • T-B- SCID
  • T-B+ SCID
  • Combined immunodeficiency
  • Cernunnos/XLF deficiency
  • Nl NK, radiation sensitive, microcephaly
  • Immunodeficiencies affecting cellular and humoral immunity
OMIM
611290
Clinvar variants
Variants in NHEJ1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: nhej1 has been classified as Green List (High Evidence).

13 Oct 2020, Gel status: 1

Added New Source, Set publications, Status Update

Eleanor Williams (Genomics England Curator)

Source Other was added to NHEJ1. Publications for gene NHEJ1 were updated from to 16439204; 20113890 Rating Changed from Green List (high evidence) to Red List (low evidence)

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to NHEJ1.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source North West GLH was added to NHEJ1.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to NHEJ1.

12 Jul 2018, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.

1 Jul 2018, Gel status: 4

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene NHEJ1 were set to Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, Severe combined immunodeficiency with microcephaly, growth retardation and sensitivity to ionizing radiation, 611291, T-B- SCID, T-B+ SCID, Combined immunodeficiency, Cernunnos/XLF deficiency, Nl NK, radiation sensitive, microcephaly, Immunodeficiencies affecting cellular and humoral immunity

26 Jun 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

IUIS Classification February 2018 was added to NHEJ1. Panel: Primary immunodeficiency disorders

26 Jun 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Victorian Clinical Genetics Services was added to NHEJ1. Panel: Primary immunodeficiency disorders

13 Jun 2018, Gel status: 4

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: nhej1 has been classified as Green List (High Evidence).

20 Apr 2018, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for NHEJ1 were set to Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation; Severe combined immunodeficiency with microcephaly, growth retardation and sensitivity to ionizing radiation, 611291; T-B- SCID; T-B+ SCID; Combined immunodeficiency; Cernunnos/XLF deficiency

17 Apr 2018, Gel status: 4

Added New Source, Set penetrance

Louise Daugherty (Genomics England Curator)

ESID Registry 20171117 was added to NHEJ1. Panel: Primary immunodeficiency disorders Phenotypes for gene NHEJ1 were set to Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, Severe combined immunodeficiency with microcephaly, growth retardation, and, Severe combined immunodeficiency with microcephaly, growth retardation and sensitivity to ionizing radiation, 611291, T-B- SCID, T-B+ SCID, Combined immunodeficiency, Cernunnos/XLF deficiency

17 Apr 2018, Gel status: 4

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene NHEJ1 were set to Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, Severe combined immunodeficiency with microcephaly, growth retardation, and, Severe combined immunodeficiency with microcephaly, growth retardation and sensitivity to ionizing radiation, 611291, T-B- SCID, T-B+ SCID

17 Apr 2018, Gel status: 4

Added New Source, Set mode of inheritance, Set penetrance

Louise Daugherty (Genomics England Curator)

GRID V2.0 was added to NHEJ1. Panel: Primary immunodeficiency disorders Model of inheritance for gene NHEJ1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene NHEJ1 were set to Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, Severe combined immunodeficiency with microcephaly, growth retardation, and, Severe combined immunodeficiency with microcephaly, growth retardation and sensitivity to ionizing radiation, 611291, T-B- SCID, T-B+ SCID

6 Apr 2018, Gel status: 4

Clear Sources

Louise Daugherty (Genomics England Curator)

NHEJ1 Source: GOSH PID 20171174 was removed from gene: NHEJ1

6 Apr 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

GOSH PID v.8.0 was added to NHEJ1. Panel: Primary immunodeficiency disorders

29 Mar 2018, Gel status: 4

Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

GOSH PID 20171174 was added to NHEJ1. Panel: Primary immunodeficiency disorders Model of inheritance for gene NHEJ1 was set to Unknown

29 Mar 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

SCID v1.6 was added to NHEJ1. Panel: Primary immunodeficiency disorders

29 Mar 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

NHEJ1 was added to Primary immunodeficiency disorders panel. Sources: Expert Review Green, Combined B and T cell defect v1.12

29 Mar 2018, Gel status: 4

Created

Louise Daugherty (Genomics England Curator)

NHEJ1 was created by Louise Daugherty