Anophthalmia_Microphthalmia_Coloboma

Gene: NR6A1

Green List (high evidence)

NR6A1 (nuclear receptor subfamily 6 group A member 1)
EnsemblGeneIds (GRCh38): ENSG00000148200
EnsemblGeneIds (GRCh37): ENSG00000148200
OMIM: 602778, Gene2Phenotype
NR6A1 is in 3 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

6 unrelated families with heterozygous rare variants (missense, nonsense, frameshift, or large deletion) with incomplete penetrance and variable expressivity. Colobomatous microphthalmia, missing vertebrae and congenital kidney abnormalities characterised the phenotype of the families. Also, supporting zebrafish model. Loss of function is the expected mechanism of disease.
Sources: Literature
Created: 4 Feb 2025, 6:05 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Craniofacial microsomia MONDO:0015397

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Craniofacial microsomia MONDO:0015397
OMIM
602778
Clinvar variants
Variants in NR6A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Feb 2025, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: nr6a1 has been classified as Green List (High Evidence).

4 Feb 2025, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: nr6a1 has been classified as Green List (High Evidence).

4 Feb 2025, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: NR6A1 was added gene: NR6A1 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature Mode of inheritance for gene: NR6A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NR6A1 were set to 39606382 Phenotypes for gene: NR6A1 were set to Craniofacial microsomia MONDO:0015397 Review for gene: NR6A1 was set to GREEN