TOPORS

TOP1 binding arginine/serine rich protein
OMIM: 609507, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Red TOPORS in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.42

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

Red TOPORS in Thoracic dystrophies

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.18

review Not set
Sources
  • Emory Genetics Laboratory

Red TOPORS in Primary ciliary disorders

Level 3: Respiratory ciliopathies
Level 2: Ciliopathies
Version 1.40

review Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies

Red TOPORS in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.211
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

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

    Green TOPORS in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 2.285
    Latest signed off version: v2.195 (5 Aug 2021)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Retinitis pigmentosa 31
    • Eye Disorders
    • Retinitis pigmentosa 31, 609923
    • Retinitis Pigmentosa, Dominant
    • Retinitis pigmentosa

    Red TOPORS in Structural eye disease


    Version 1.132
    Latest signed off version: v1.3 (4 Mar 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Retinitis pigmentosa 31, 609923
    • Eye Disorders

    Red TOPORS in Rare multisystem ciliopathy disorders

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.160

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

    Red TOPORS in Ophthalmological ciliopathies


    Version 1.30
    Latest signed off version: v1.3 (19 Feb 2020)

    Component of the following Super Panels:

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