Retinal disorders
Gene: AHRNo 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 2020Created: 25 May 2022, 10:21 p.m. | Last Modified: 25 May 2022, 10:21 p.m.
Panel Version: 2.272
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
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
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
Publications for gene: AHR were set to 29726989; 31896775
Tag watchlist tag was added to gene: AHR.
Publications for gene: AHR were set to
Phenotypes for gene: AHR were changed from ?Retinitis pigmentosa 85, OMIM:618345 to ?Retinitis pigmentosa 85, OMIM:618345; Retinal dystrophy
Phenotypes for gene: AHR were changed from to ?Retinitis pigmentosa 85, OMIM:618345
Mode of inheritance for gene: AHR was changed from to BIALLELIC, autosomal or pseudoautosomal
gene: AHR was added gene: AHR was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: AHR was set to