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  2. Retinitis pigmentosa_Autosomal Recessive/X-linked
  3. AHR
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Retinitis pigmentosa_Autosomal Recessive/X-linked

Gene: AHR

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

3 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: Not sure if the second reported family really has RP phenotype.
Created: 3 Aug 2020, 6:07 a.m. | Last Modified: 3 Aug 2020, 6:07 a.m.
Panel Version: 0.59
Created: 3 Aug 2020, 6:07 a.m.
Last Modified: 3 Aug 2020, 6:07 a.m.
Panel version: 0.59

Chern Lim (Victorian Clinical Genetics Services)

I don't know

A homozygous nonsense variant in 1 consanguineous family with foveal hypoplasia and infantile nystagmus (PMID:31896775).
Created: 3 Aug 2020, 6:01 a.m. | Last Modified: 3 Aug 2020, 6:01 a.m.
Panel Version: 0.59

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
foveal hypoplasia and infantile nystagmus

Publications

Created: 3 Aug 2020, 6:01 a.m.
Last Modified: 3 Aug 2020, 6:01 a.m.
Panel version: 0.59

Bryony Thompson (Royal Melbourne Hospital)

I don't know

One reported homozygous splice variant in a consanguineous family & a mouse model (PMID: 29726989)
Created: 7 Feb 2020, 10:44 a.m. | Last Modified: 7 Feb 2020, 10:44 a.m.
Panel Version: 0.10

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Retinitis pigmentosa 85 MIM#618345

Publications

Created: 7 Feb 2020, 10:44 a.m.
Last Modified: 7 Feb 2020, 10:44 a.m.
Panel version: 0.10

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • ?Retinitis pigmentosa 85
OMIM
600253
Clinvar variants
Variants in AHR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Aug 2020, 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).

7 Feb 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

23 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: AHR was added gene: AHR was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: AHR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AHR were set to 29726989 Phenotypes for gene: AHR were set to ?Retinitis pigmentosa 85