AHR

aryl hydrocarbon receptor
OMIM: 600253, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber AHR in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • ?Retinitis pigmentosa 85 MIM#618345
  • foveal hypoplasia and infantile nystagmus

Amber AHR in Retinitis pigmentosa_Autosomal Recessive/X-linked


Level 2: Ophthalmological disorders
Version 0.147

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • Retinitis Pigmentosa Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Royal Melbourne Hospital
    Phenotypes
    • ?Retinitis pigmentosa 85

    Amber AHR in Congenital nystagmus


    Level 2: Ophthalmological disorders
    Version 1.21

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Genomics England PanelApp
    • NHS Genomic Medicine Service
    • Literature
    Phenotypes
    • Foveal hypoplasia without albinism
    • Infantile nystagmus