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Intellectual disability syndromic and non-syndromic

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 14 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Clinical presentation is with SCID, short stature and microcephaly. ID was part of the phenotype in only one individual in the original paper describing this condition.
Created: 5 Mar 2020, 10:57 p.m. | Last Modified: 5 Mar 2020, 10:57 p.m.
Panel Version: 0.2401

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM#611291
OMIM
611290
Clinvar variants
Variants in NHEJ1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Mar 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nhej1 has been classified as Red List (Low Evidence).

5 Mar 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

5 Mar 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NHEJ1 were set to

5 Mar 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

5 Mar 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nhej1 has been classified as Red List (Low Evidence).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NHEJ1 was added gene: NHEJ1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NHEJ1 was set to Unknown