PanelApp
  1. Genes and Genomic Entities
  2. TOPORS

TOPORS

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

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Amber TOPORS in Ciliopathies


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.94

3 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • ciliopathy, MONDO:0005308, TOPORS-associated
  • postaxial polydactyly, MONDO:0020927, TOPORS-related
  • multiple lingual hamartomas

Amber TOPORS in Joubert syndrome and other neurological ciliopathies


Level 2: Neurology and neurodevelopmental disorders
Version 1.31

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Joubert syndrome, MONDO:0018772, TOPORS-related
Tags
  • founder

Green TOPORS in Mendeliome


Version 1.3512

2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
  • Victorian Clinical Genetics Services
Phenotypes
  • Retinitis pigmentosa 31 (MIM#609923)
  • Ciliopathy, MONDO:0005308, TOPORS-associated, AR

Amber TOPORS in Polydactyly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.296

Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • MONDO:0005308
    • ciliopathy
    • postaxial polydactyly
    • multiple lingual hamartomas
    • dysmorphic features

    Red TOPORS in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.346

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

    Green TOPORS in Retinitis pigmentosa_Autosomal Dominant


    Level 2: Ophthalmological disorders
    Version 0.80

    Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • Retinitis Pigmentosa Superpanel

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Retinitis pigmentosa 31, MIM#609923
    • TOPORS-related retinopathy MONDO:0700233

    Amber TOPORS in Fetal anomalies


    Version 1.465

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • MONDO:0005308
    • ciliopathy
    • postaxial polydactyly
    • multiple lingual hamartomas
    • dysmorphic features