Retinal disorders

Gene: AHR

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.

Created: 24 Feb 2025, 5:49 p.m. | Last Modified: 24 Feb 2025, 5:49 p.m.

Panel Version: 7.8

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Green List (high evidence)

AHR variants have been associated with Retinitis pigmentosa 85 (OMIM:618345) and AHR has an association with AHR-related Retinitis pigmentosa in Gen2Phen, which is classified as limited. Three different homozygous AHR variants were been reported in three unrelated cases of foveal hypoplasia (PMID: 29726989;31896775;31009037;33193710;35188035). Evidence was given for segregation of NM_001621.5:c.1861C>T, p.(Gln621*) with OMIM:618345, and nystagmus was also found in these patients (PMID: 31896775;31009037;33193710).

Created: 17 Sep 2024, 3:53 p.m. | Last Modified: 17 Sep 2024, 3:53 p.m.

Panel Version: 6.3

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

No new cases reported. The family (TR16) reported in PMID: 31009037 - Mayer et al. 2019 with a homozygous nonsense variant in AHR and foveal hypoplasia and infantile nystagmus is the same family reported to have an AHR variant in PMID:31896775 - Mayer et al 2020

Created: 25 May 2022, 10:21 p.m. | Last Modified: 25 May 2022, 10:21 p.m.

Panel Version: 2.272

Green List (high evidence)

Additional unrelated families with foveal hypoplasia have been reported with biallelic mutations in AHR. The mutations detected were homozygous nonesense variants in two different patients and a splicing variant in another patient.

Created: 2 Jul 2024, 3:17 p.m. | Last Modified: 3 Jul 2024, 12:52 a.m.

Panel Version: 5.15

Splicing variants in AHR has been implicated in autosomal recessive retinitis pigmentosa (Zhou et al., 2018). However, homozygous nonsense variants are reported causative for infantile nystagmus with isolated foveal hypoplasia (Mayer et al, 2019)

Created: 7 Mar 2022, 5:52 p.m. | Last Modified: 7 Mar 2022, 5:52 p.m.

Panel Version: 2.242

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa; Foveal hypoplasia; infantile nystagmus

Publications

• (Mayer et al., 2019) (PMID: 31009037)
• (Borovok et al., 2020) (PMID: 33193710)
• (AlMoallem et al., 2022) (PMID:35188035)

I don't know

Two families reported with slightly different eye phenotypes:
- One reported homozygous splice variant in a consanguineous family with RP & a mouse model (PMID: 29726989)

- A homozygous nonsense variant in a consanguineous family with foveal hypoplasia and infantile nystagmus (PMID:31896775).

Created: 4 Aug 2020, 10:43 a.m. | Last Modified: 4 Aug 2020, 10:43 a.m.

Panel Version: 2.16

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinal dystrophy

Publications

• 29726989
• 31896775

I don't know

This gene is associated with a phenotype in OMIM and Gene2Phenotype. There is currently not enough evidence to support a gene-disease association so this gene will remain Amber.

Created: 18 Dec 2020, 3:08 p.m. | Last Modified: 18 Dec 2020, 3:08 p.m.

Panel Version: 2.30

Submitted on behalf of the GMS Eye specialist group. These genes are also from RetNet. There is currently not enough evidence to rate these genes Green, therefore they have been given an Amber rating.

Created: 27 Dec 2019, 9:10 a.m. | Last Modified: 27 Dec 2019, 9:10 a.m.

Panel Version: 2.5