1. Genes and Genomic Entities
  2. RDH11

RDH11

retinol dehydrogenase 11 (all-trans/9-cis/11-cis)
OMIM: 607849, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Amber RDH11 in Bilateral congenital or childhood onset cataracts


Level 2: Ophthalmology
Version 7.10
Latest signed off version: v7.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • ?Retinal dystrophy, juvenile cataracts, and short stature syndrome, OMIM:616108
  • Neurodevelopmental delay, HP:0012758
  • Juvenile cataract, HP:0001118
Tags
  • Q2_26_promote_green
Amber RDH11 in Malformations of cortical development


Level 2: Neurology
Version 7.50
Latest signed off version: v7.0 (30 Oct 2024)

Component of the following Super Panels:

  • Cerebral malformation

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • ?Retinal dystrophy, juvenile cataracts, and short stature syndrome, OMIM:616108
    • Neurodevelopmental delay, HP:0012758
    • Juvenile cataract, HP:0001118
    Tags
    • Q2_26_promote_green
    Amber RDH11 in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies


    Level 2: Neurology
    Version 5.41
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • ?Retinal dystrophy, juvenile cataracts, and short stature syndrome, OMIM:616108
    • Neurodevelopmental delay, HP:0012758
    • Juvenile cataract, HP:0001118
    Tags
    • Q2_26_promote_green
    Amber RDH11 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.370
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • ?Retinal dystrophy, juvenile cataracts, and short stature syndrome, OMIM:616108
    • Neurodevelopmental delay, HP:0012758
    • Juvenile cataract, HP:0001118
    Tags
    • Q2_26_promote_green
    Amber RDH11 in Retinal disorders


    Level 2: Ophthalmology
    Version 8.116
    Latest signed off version: v8.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    • RetNet
    Phenotypes
    • ?Retinal dystrophy, juvenile cataracts, and short stature syndrome, OMIM:616108
    • Neurodevelopmental delay, HP:0012758
    • Juvenile cataract, HP:0001118
    Tags
    • Q2_26_promote_green