PanelApp
  1. Genes and Genomic Entities
  2. STN1

STN1

STN1, CST complex subunit
OMIM: 613128, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green STN1 in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.129

Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Cerebroretinal microangiopathy with calcification and cysts 2, MIM#617341

    Green STN1 in Brain Calcification


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.99

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Cerebroretinal microangiopathy with calcifications and cysts 2, MIM# 617341

    Green STN1 in Mendeliome


    Version 1.3513

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Cerebroretinal microangiopathy with calcification and cysts 2, MIM#617341

    Amber STN1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.410

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Cerebroretinal microangiopathy with calcification and cysts 2, MIM#617341

    Green STN1 in Syndromic Retinopathy


    Level 2: Ophthalmological disorders
    Version 0.234

    Component of the following Super Panels:

  • Retinal Disorders Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Cerebroretinal microangiopathy with calcification and cysts 2, MIM#617341

    Green STN1 in Liver Failure_Paediatric


    Level 2: Gastroenterological disorders
    Version 1.30

    Component of the following Super Panels:

  • Liverome Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Cerebroretinal microangiopathy with calcification and cysts 2, MIM#617341