NHEJ1

non-homologous end joining factor 1
OMIM: 611290, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green NHEJ1 in COVID-19 research


Level 2: Viral research
Version 0.374

review 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

Green NHEJ1 in Primary immunodeficiency


Version 2.175
Signed off v.2.1 on 24 Feb 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • 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
  • 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

Green NHEJ1 in Severe microcephaly

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.6
Signed off v.2.2 on 2 Mar 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation 611291

Green NHEJ1 in Fetal anomalies


Version 1.73
Signed off v.1.2 on 17 Feb 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • PAGE Additional Gene List
  • Expert Review Green
Phenotypes
  • Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation 611291

Red NHEJ1 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.73
Signed off v.3.2 on 13 Feb 2020

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Red
    • Expert Review Red
    • Expert Review Amber
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation

    Green NHEJ1 in Severe Paediatric Disorders


    Version 1.6

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, 611291

    Green NHEJ1 in Immunological disorders_SuperPanel_PanelAppAustralia


    Level 2: Immunological disorders
    Version 0.3

    review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Melbourne Genomics Health Alliance Immunology Flagship