RPGRIP1

RPGR interacting protein 1
OMIM: 605446, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Red RPGRIP1 in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.7

review Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders

Red RPGRIP1 in Thoracic dystrophies

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.7

review Not set
Sources
  • Emory Genetics Laboratory

Red RPGRIP1 in Primary ciliary disorders

Level 3: Respiratory ciliopathies
Level 2: Ciliopathies
Version 1.24

review Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies

Red RPGRIP1 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.7
Signed off v.2.2 on 13 Feb 2020

Component of the following Super Panels:

  • Paediatric disorders
  • review Not set
    Sources
    • Emory Genetics Laboratory

    Red RPGRIP1 in Fetal anomalies


    Version 1.73
    Signed off v.1.2 on 17 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • LEBER CONGENITAL AMAUROSIS 6
    • CONE-ROD DYSTROPHY 13

    Green RPGRIP1 in DDG2P


    Version 2.5
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • LEBER CONGENITAL AMAUROSIS 6 613826
    • CONE-ROD DYSTROPHY 13 608194

    Amber RPGRIP1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.66
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Leber congenital amaurosis 6, 613826
    • Cone-rod dystrophy 13, 608194

    Green RPGRIP1 in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 2.13
    Signed off v.2.7 on 25 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Achromatopsia, Cone, and Cone-rod Dystrophy
    • Cone - rod dystrophy 13
    • Leber congenital amaurosis 6
    • Macular Dystrophy/Degeneration/Stargardt Disease
    • Leber Congenital Amaurosis
    • Leber congenital amaurosis 6, 613826
    • Eye Disorders
    • Retinitis pigmentosa
    • Cone-Rod Dystrophy, Recessive
    • Leber congenital amaurosis 6, 613826Cone-rod dystrophy 13, 608194

    Red RPGRIP1 in Structural eye disease


    Version 1.5
    Signed off v.1.3 on 4 Mar 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Cone-rod dystrophy 13, 608194
    • Leber congenital amaurosis 6, 613826
    • Eye Disorders

    Red RPGRIP1 in Rare multisystem ciliopathy disorders

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.125

    review Not set
    Sources
    • Expert Review Red
    • Orphanet
    • Emory Genetics Laboratory
    Phenotypes
    • Ciliopathies
    • Meckel syndrome

    Red RPGRIP1 in Ophthalmological ciliopathies


    Version 1.4
    Signed off v.1.3 on 19 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • review Not set
    Sources
    • Expert Review Red
    • Orphanet
    • Emory Genetics Laboratory
    Phenotypes
    • Meckel syndrome
    • Ciliopathies

    Green RPGRIP1 in Severe Paediatric Disorders


    Version 1.6

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Leber congenital amaurosis 6, 613826
    • Cone-rod dystrophy 13, 608194