RDH11:Ensemblv90

retinol dehydrogenase 11 (all-trans/9-cis/11-cis)
OMIM: 607849, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber RDH11 in Mendeliome


Version 1.3802

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Retinal dystrophy, juvenile cataracts, and short stature syndrome, MIM# 616108

Amber RDH11 in Syndromic Retinopathy


Level 2: Ophthalmological disorders
Version 0.235

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • 2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • RetNet
    Phenotypes
    • Retinal dystrophy, juvenile cataracts, and short stature syndrome, MIM# 616108

    Amber RDH11 in Syndromic Retinopathy


    Level 2: Ophthalmological disorders
    Version 1.0

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • RetNet
    • Expert Review Amber
    Phenotypes
    • Retinal dystrophy, juvenile cataracts, and short stature syndrome, MIM# 616108