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  3. NHEJ1
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Anophthalmia_Microphthalmia_Coloboma

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)

Seven individuals from 2 consanguineous families identified with a deep intronic homozygous variant affecting the IHH enhancer within NHEJ1.
Sources: Literature
Created: 3 Oct 2024, 6:06 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microphthalmia/coloboma, MIM# 13 620968

Publications

Created: 3 Oct 2024, 6:06 a.m.

Panel version: 1.40

History Filter Activity

3 Oct 2024, 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).

3 Oct 2024, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NHEJ1 was added gene: NHEJ1 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature deep intronic tags were added to gene: NHEJ1. Mode of inheritance for gene: NHEJ1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NHEJ1 were set to 37580330 Phenotypes for gene: NHEJ1 were set to Microphthalmia/coloboma, MIM# 13 620968 Review for gene: NHEJ1 was set to RED