RP2

RP2, ARL3 GTPase activating protein
OMIM: 300757, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green RP2 in Mendeliome


Version 1.1891

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Retinitis pigmentosa 2 MIM#312600

Green RP2 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 X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Retinitis Pigmentosa, X-linked
    • Retinitis pigmentosa 2, 312600

    Green RP2 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Retinitis pigmentosa 2, 312600 (3)

    Green RP2 in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Retinitis pigmentosa 2, 312600 (3)

    Green RP2 in Prepair 500+


    Level 2: Screening
    Version 1.1

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Retinitis pigmentosa 2, 312600 (3)