PITPNM3

PITPNM family member 3
OMIM: 608921, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Red PITPNM3 in Mendeliome


Version 1.1891

review Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services

Red PITPNM3 in Retinitis pigmentosa_Autosomal Dominant


Level 2: Ophthalmological disorders
Version 0.57

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • Retinitis Pigmentosa Superpanel
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Royal Melbourne Hospital
    Phenotypes
    • Cone-rod dystrophy 5, 600977

    Red PITPNM3 in Macular Dystrophy/Stargardt Disease


    Level 2: Ophthalmological disorders
    Version 0.45

    Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Royal Melbourne Hospital
    Phenotypes
    • Cone-rod dystrophy 5, 600977

    Red PITPNM3 in Cone-rod Dystrophy


    Level 2: Ophthalmological disorders
    Version 0.54

    Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Royal Melbourne Hospital
    • Royal Melbourne Hospital
    Phenotypes
    • Cone-rod dystrophy 5, 600977