PanelApp (staging)
  1. Genes and Genomic Entities
  2. AHR

AHR

aryl hydrocarbon receptor
OMIM: 600253, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber AHR in Mendeliome


Version 1.2302

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Retinitis pigmentosa 85 MIM#618345
  • Foveal hypoplasia 3, MIM# 620958

Amber AHR in Retinitis pigmentosa_Autosomal Recessive/X-linked


Level 2: Ophthalmological disorders
Version 0.155

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • Retinitis Pigmentosa Superpanel

    		•  3 reviews 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 1.22

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Genomics England PanelApp
    • NHS Genomic Medicine Service
    • Literature
    Phenotypes
    • Foveal hypoplasia 3, MIM# 620958