Albinism or congenital nystagmus
Gene: AHR
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
gene: AHR was added gene: AHR was added to Albinism or congenital nystagmus. Sources: Expert list,Expert Review Amber 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 ?Retinitis pigmentosa 85, 618345; Foveal hypoplasia without albinism; Infantile nystagmus