PROM1

prominin 1
OMIM: 604365, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green PROM1 in Mendeliome


Version 1.1902

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Inherited retinal dystrophy, MONDO:0019118
  • Cone-rod dystrophy 12, MIM# 612657
  • Macular dystrophy, retinal, 2, MI# 608051
  • Retinitis pigmentosa 41, MIM# 612095
  • Stargardt disease 4, MIM# 603786

Red PROM1 in Polydactyly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.276

Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cone-rod dystrophy 12, MIM# 612657
    • Macular dystrophy, retinal, 2, MIM# 608051
    • Retinitis pigmentosa 41, MIM# 612095
    • Stargardt disease 4, MIM# 603786

    Green PROM1 in Retinitis pigmentosa_Autosomal Recessive/X-linked


    Level 2: Ophthalmological disorders
    Version 0.147

    Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • Retinitis Pigmentosa Superpanel
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Stargardt disease 4, 603786
    • Macular dystrophy, retinal, 2, 608051
    • Retinitis pigmentosa 41, 612095
    • Cone-rod dystrophy 12, 612657

    Green PROM1 in Macular Dystrophy/Stargardt Disease


    Level 2: Ophthalmological disorders
    Version 0.45

    Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Royal Melbourne Hospital
    • Expert Review Green
    Phenotypes
    • Retinitis pigmentosa 41, 612095
    • Cone-rod dystrophy 12, 612657
    • Stargardt disease 4, 603786
    • Macular dystrophy, retinal, 2, 608051

    Green PROM1 in Cone-rod Dystrophy


    Level 2: Ophthalmological disorders
    Version 0.54

    Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Cone-rod dystrophy 12, 612657