Polymicrogyria and Schizencephaly
Gene: NHEJ1EnsemblGeneIds (GRCh38): ENSG00000187736
EnsemblGeneIds (GRCh37): ENSG00000187736
OMIM: 611290, Gene2Phenotype
NHEJ1 is in 14 panels
1 review
Lauren Akesson (Royal Melbourne Hospital)
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
- PMID: 17191205
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Amber
- Victorian Clinical Genetics Services
- Australian Genomics Health Alliance Brain Malformations Flagship
- 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
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Chromosome Breakage Disorders
- Anophthalmia_Microphthalmia_Coloboma
- Fetal anomalies
- Additional findings_Paediatric
- Prepair 1000+
- Microcephaly
- Mendeliome
- Severe Combined Immunodeficiency (absent T absent B cells)
- BabyScreen+ newborn screening
- Polymicrogyria and Schizencephaly
- Intellectual disability syndromic and non-syndromic
- Callosome
- Growth failure
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: nhej1 has been classified as Amber List (Moderate Evidence).
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)
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: NHEJ1 were set to
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: nhej1 has been classified as Amber List (Moderate Evidence).
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 Polymicrogyria and schizencephaly_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: NHEJ1 was set to Unknown