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  3. NHEJ1
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Fetal anomalies

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 14 panels

3 reviews

Alison Yeung (Victorian Clinical Genetics Services)

Green List (high evidence)

Fetal anomalies include: microcephaly and prenatal growth restriction
Created: 25 Feb 2022, 5:26 a.m. | Last Modified: 25 Feb 2022, 5:26 a.m.
Panel Version: 0.4249

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM# 611291; Cernunnos-XLF deficiency MONDO:0012650

Publications

Created: 25 Feb 2022, 5:26 a.m.
Last Modified: 25 Feb 2022, 5:26 a.m.
Panel version: 0.4249

Lauren Akesson (Royal Melbourne Hospital)

I don't know

Limited evidence for malformations of cortical development.

PMID: 17191205 – foetus with disruption of NHEJ1 (chromosomal translocation) with polymicrogyria. (note initial reports of this gene showed biallelic inheritance)

PMID: 25288157 – supportive animal model showing that NHEJ1 protein is necessary for proper rat cortical development.
Created: 22 May 2020, 6:35 a.m. | Last Modified: 22 May 2020, 6:35 a.m.
Panel Version: 0.63

Mode of inheritance
Unknown

Phenotypes
Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation (MIM# 611291)

Publications

Created: 22 May 2020, 6:35 a.m.
Last Modified: 22 May 2020, 6:35 a.m.
Panel version: Imported from Polymicrogyria and Schizencephaly panel version 0.63

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Clinical presentation is with SCID, short stature and microcephaly.
Created: 5 Mar 2020, 10:57 p.m. | Last Modified: 28 Feb 2022, 12:46 a.m.
Panel Version: 0.4258

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM#611291

Publications

Created: 5 Mar 2020, 10:57 p.m.
Last Modified: 28 Feb 2022, 12:46 a.m.
Panel version: 0.4258

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM# 611291
  • Cernunnos-XLF deficiency MONDO:0012650
OMIM
611290
Clinvar variants
Variants in NHEJ1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

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

25 Feb 2022, Gel status: 3

Set Phenotypes

Alison Yeung (Victorian Clinical Genetics Services)

Phenotypes for gene: NHEJ1 were changed from Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation 611291 to Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM# 611291; Cernunnos-XLF deficiency MONDO:0012650

25 Feb 2022, Gel status: 3

Set publications

Alison Yeung (Victorian Clinical Genetics Services)

Publications for gene: NHEJ1 were set to

24 Oct 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NHEJ1 was added gene: NHEJ1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode 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 611291