Albinism or congenital nystagmus

Gene: AHR

I don't know

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 (PMID: 31896775;31009037;33193710). Nystagmus was only found in the patients carrying NM_001621.5:c.1861C>T, p.(Gln621*).

Created: 17 Sep 2024, 3:55 p.m. | Last Modified: 17 Sep 2024, 3:55 p.m.

Panel Version: 3.6

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

• 28851966
• 31009037
• 23301081