Albinism or congenital nystagmus

Gene: AHR

Amber List (moderate evidence)

AHR (aryl hydrocarbon receptor)
EnsemblGeneIds (GRCh38): ENSG00000106546
EnsemblGeneIds (GRCh37): ENSG00000106546
OMIM: 600253, Gene2Phenotype
AHR is in 2 panels

1 review

Ivone Leong (Genomics England Curator)

I don't know

The addition of this gene was suggested by Associate Professor Jay Self (Southampton University Hospital).

AHR is associated with ?Retinitis pigmentosa 85 in OMIM but not associated with a phenotype in Gene2Phenotype. PMID: 31009037 reported on a Christian-Arabic consanguineous family with 3 affected children who have a homozygous missense variant in the AHR gene that cause a nonsense mutation. This report is supported by knockout mouse models (PMID: 28851966; 23301081). Therefore, AHR has been given an Amber gene rating until more evidence is available.
Created: 29 Jul 2019, 10:33 a.m. | Last Modified: 29 Jul 2019, 10:33 a.m.
Panel Version: 0.19

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Foveal hypoplasia without albinism; Infantile nystagmus

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • ?Retinitis pigmentosa 85, 618345
  • Foveal hypoplasia without albinism
  • Infantile nystagmus
OMIM
600253
Clinvar variants
Variants in AHR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jul 2019, Gel status: 2

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

Ivone Leong (Genomics England Curator)

gene: AHR was added gene: AHR was added to Albinism or congenital nystagmus. Sources: Expert list,Expert Review Amber Mode of inheritance for gene: AHR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AHR were set to 28851966; 31009037; 23301081 Phenotypes for gene: AHR were set to ?Retinitis pigmentosa 85, 618345; Foveal hypoplasia without albinism; Infantile nystagmus