AHR

aryl hydrocarbon receptor
OMIM: 600253, Gene2Phenotype

2 panels

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


Version 3.5
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • ?Retinitis pigmentosa 85, 618345
  • Foveal hypoplasia without albinism
  • Infantile nystagmus
Amber AHR in Retinal disorders

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.89
Latest signed off version: v4.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • RetNet
  • Expert Review Amber
Phenotypes
  • ?Retinitis pigmentosa 85, OMIM:618345
  • Retinal dystrophy
Tags
  • watchlist