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22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Loss
ISCA-37433-Loss 3
22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Loss
ISCA-37446-Loss 2

Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: NHEJ1

NHEJ1 (non-homologous end joining factor 1)
EnsemblGeneIds (GRCh38): ENSG00000187736
EnsemblGeneIds (GRCh37): ENSG00000187736
OMIM: 611290, Gene2Phenotype
NHEJ1 is in 5 panels

10 reviews

Arina Puzriakova (Genomics England Curator)

Comment on phenotypes: Previous (overwritten) 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
Created: 1 Mar 2024, 2:54 p.m. | Last Modified: 1 Mar 2024, 2:54 p.m.

Panel Version: 4.192

Created: 1 Mar 2024, 2:54 p.m.
Last Modified: 1 Mar 2024, 2:54 p.m.
Panel version: 4.192

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

Created: 13 Oct 2020, 9:36 a.m.
Last Modified: 13 Oct 2020, 9:36 a.m.
Panel version: 2.208

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.

Created: 17 Apr 2018, 12:12 p.m.

Panel version: 1.94

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Created: 5 Nov 2017, 2:41 a.m.

Panel version: Imported from Combined B and T cell defect panel version 0

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

Created: 5 Nov 2017, 2:41 a.m.

Panel version: 1.94

Peter Arkwright (Royal Manchester Foundation Trust)

Green List (high evidence)

Created: 5 Nov 2017, 2:41 a.m.

Panel version: Imported from Combined B and T cell defect panel version 0

Christopher Duncan (Newcastle University)

Green List (high evidence)

Created: 5 Nov 2017, 2:39 a.m.

Panel version: Imported from SCID panel version 0

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

Created: 5 Nov 2017, 2:39 a.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.

Created: 20 May 2016, 2:10 p.m.

Panel version: Imported from SCID panel version 0.24

William Rae (University Hospital Southampton NHS Foundation Trust)

Green List (high evidence)

Created: 29 Apr 2016, 3:29 p.m.

Panel version: Imported from Combined B and T cell defect panel version 0.12

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, OMIM:611291

OMIM

611290

Clinvar variants

Variants in NHEJ1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

1 Mar 2024, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: NHEJ1 were changed from 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 to Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, OMIM:611291

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