AHR

aryl hydrocarbon receptor
OMIM: 600253, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Amber AHR in Albinism or congenital nystagmus


Level 2: Ophthalmology
Version 4.2
Latest signed off version: v4.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • ?Retinitis pigmentosa 85, OMIM:618345
  • retinitis pigmentosa 85, MONDO:0032689
Green AHR in Retinal disorders


Level 2: Ophthalmology
Version 8.86
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • RetNet
Phenotypes
  • ?Retinitis pigmentosa 85, OMIM:618345
  • retinitis pigmentosa 85, MONDO:0032689