NHEJ1

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

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green NHEJ1 in COVID-19 research


Level 2: Viral research
Version 1.130

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 2.572
Latest signed off version: v2.1 (24 Feb 2020)

review 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

Green NHEJ1 in Severe microcephaly

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.315
Latest signed off version: v2.2 (2 Mar 2020)

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

Green NHEJ1 in Fetal anomalies


Version 1.880
Latest signed off version: v1.92 (21 Aug 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 3.1651
Latest signed off version: v3.2 (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
    • 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 1.127

    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