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  3. AHR
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Congenital nystagmus

Gene: AHR

Amber List (moderate evidence)
AHR (aryl hydrocarbon receptor)
EnsemblGeneIds (GRCh38): ENSG00000106546
EnsemblGeneIds (GRCh37): ENSG00000106546
OMIM: 600253, Gene2Phenotype
AHR is in 3 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two families and functional data.
Created: 27 Oct 2021, 6:20 a.m. | Last Modified: 27 Oct 2021, 6:20 a.m.
Panel Version: 0.140

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Foveal hypoplasia 3, MIM# 620958

Publications

Created: 27 Oct 2021, 6:20 a.m.
Last Modified: 27 Oct 2021, 6:20 a.m.
Panel version: 1.21

Chern Lim (Victorian Clinical Genetics Services)

I don't know

- One reported homozygous splice variant in a consanguineous family & a mouse model (PMID: 29726989)

- A homozygous nonsense variant in 1 consanguineous family with foveal hypoplasia and infantile nystagmus (PMID:31896775).
Sources: Literature
Created: 3 Aug 2020, 6:18 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Retinitis pigmentosa 85 MIM#618345; foveal hypoplasia and infantile nystagmus

Publications

Created: 3 Aug 2020, 6:18 a.m.

Panel version: Imported from Mendeliome panel version 0.3657

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genomics England PanelApp
  • NHS Genomic Medicine Service
Phenotypes
  • Foveal hypoplasia 3, MIM# 620958
OMIM
600253
Clinvar variants
Variants in AHR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Sep 2024, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: AHR were changed from Foveal hypoplasia without albinism; Infantile nystagmus to Foveal hypoplasia 3, MIM# 620958

27 Oct 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ahr has been classified as Amber List (Moderate Evidence).

27 Oct 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: AHR were changed from ?Retinitis pigmentosa 85, 618345; Foveal hypoplasia without albinism; Infantile nystagmus to Foveal hypoplasia without albinism; Infantile nystagmus

6 Oct 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Added phenotypes Foveal hypoplasia without albinism; ?Retinitis pigmentosa 85, 618345; Infantile nystagmus for gene: AHR

6 Oct 2021, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: AHR was added gene: AHR was added to Albinism or congenital nystagmus. Sources: Expert Review Amber,NHS Genomic Medicine Service,Genomics England PanelApp 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 Foveal hypoplasia without albinism; ?Retinitis pigmentosa 85, 618345; Infantile nystagmus