RDH11

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

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green RDH11 in Mendeliome


Version 1.4601

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

Green RDH11 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.709

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Retinal dystrophy, juvenile cataracts, and short stature syndrome, MIM# 616108

Green RDH11 in Syndromic Retinopathy


Level 2: Ophthalmological disorders
Version 0.251

Component of the following Super Panels:

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