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Intellectual disability update Jan 2018

Gene: NHEJ1

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

1 review

Sarah Leigh (Genomics England Curator)

Associated with phenotype in OMIM, not in G2P. At least 6 variants reported in 9 members of 5 families, however, only one case of mental retardation was reported amongst the reported cases (PMID 16439204).
Created: 28 Feb 2018, 9:16 a.m.
Created: 28 Feb 2018, 9:16 a.m.

Panel version: 0.149

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
  • Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation 611291
OMIM
611290
Clinvar variants
Variants in NHEJ1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Feb 2018, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for NHEJ1 were set to 28741180; 16439204; 16439205

28 Feb 2018, Gel status: 1

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for NHEJ1 was changed from to BIALLELIC, autosomal or pseudoautosomal

28 Feb 2018, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

28 Feb 2018, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for NHEJ1 were set to Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation 611291

28 Feb 2018, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for NHEJ1 were set to 28741180; 16439204

18 Dec 2017, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

NHEJ1 was added to Intellectual disability update Jan 2018 panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Amber

18 Dec 2017, Gel status: 2

Created

Ellen McDonagh (Genomics England Curator)

NHEJ1 was created by Ellen McDonagh