PROM1

prominin 1
OMIM: 604365, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Red PROM1 in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.45

review Not set
Sources
  • NHS GMS
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders
Red PROM1 in COVID-19 research


Level 2: Viral research
Version 1.141

review Not set
Sources
  • Literature
Red PROM1 in Limb disorders


Version 4.18
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders
  • review Unknown
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Polydactyly
    Green PROM1 in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 4.89
    Latest signed off version: v4.0 (22 Mar 2023)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Achromatopsia, Cone, and Cone-rod Dystrophy
    • Cone - rod dystrophy 12
    • Macular dystrophy, retinal, 2
    • Retinitis pigmentosa 41
    • Stargardt disease 4
    • Retinal Macular Dystrophy
    • Retinitis pigmentosa 41, 612095
    • Cone-rod dystrophy 12, 612657
    • Stargardt disease 4, 603786
    • Macular dystrophy, retinal, 2, 608051
    • Stargardt Disease, Dominant
    • Macular Dystrophy/Degeneration/Stargardt Disease
    • Eye Disorders
    • Retinitis pigmentosa
    • Retinitis Pigmentosa, Recessive
    • Cone-Rod Dystrophy, Dominant
    • Retinitis pigmentosa 41, 612095
    Red PROM1 in Structural eye disease


    Version 3.77
    Latest signed off version: v3.0 (22 Mar 2023)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Stargardt disease 4, 603786
    • Macular dystrophy, retinal, 2, 608051
    • Cone-rod dystrophy 12, 612657
    • Retinitis pigmentosa 41, 612095
    • Eye Disorders