PanelApp (staging)
  1. Genes and Genomic Entities
  2. RPGRIP1

RPGRIP1

RPGR interacting protein 1
OMIM: 605446, ClinGen, DECIPHER

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green RPGRIP1 in Ciliopathies


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.62

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Leber congenital amaurosis 6 (MIM#613826)

Green RPGRIP1 in Mendeliome


Version 1.2302

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
  • Victorian Clinical Genetics Services
Phenotypes
  • Cone-rod dystrophy 13 (MIM#608194) , Leber congenital amaurosis (MIM#61382)

Red RPGRIP1 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.302

2 reviews Not set
Sources
  • Expert Review
  • Emory Genetics Laboratory

Green RPGRIP1 in Retinitis pigmentosa_Autosomal Recessive/X-linked


Level 2: Ophthalmological disorders
Version 0.155

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • Retinitis Pigmentosa Superpanel

    		•  0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Leber congenital amaurosis 6, 613826
    • Cone-rod dystrophy 13, 608194

    Green RPGRIP1 in Macular Dystrophy/Stargardt Disease


    Level 2: Ophthalmological disorders
    Version 0.45

    Component of the following Super Panels:

  • Retinal Disorders Superpanel

    		•  0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Royal Melbourne Hospital
    • Expert Review Green
    Phenotypes
    • Leber congenital amaurosis 6, 613826
    • Cone-rod dystrophy 13, 608194

    Green RPGRIP1 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Cone-rod dystrophy 13, 608194 (3)

    Green RPGRIP1 in Cone-rod Dystrophy


    Level 2: Ophthalmological disorders
    Version 0.54

    Component of the following Super Panels:

  • Retinal Disorders Superpanel

    		•  0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Cone-rod dystrophy 13, 608194

    Green RPGRIP1 in Congenital nystagmus


    Level 2: Ophthalmological disorders
    Version 1.22

    		3 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Expert Review
    Phenotypes
    • Leber congenital amaurosis 6, MIM# 613826
    • congenital nystagmus

    Green RPGRIP1 in Prepair 1000+


    Level 2: Screening
    Version 1.1566

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Cone-rod dystrophy 13 MIM#608194, MONDO:0011987, Leber congenital amaurosis MIM#61382,MONDO:0013446