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 1.114

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review 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
  • review 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 1.2374

    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 1.83

    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 0.219

    Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • 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 1.24

    Component of the following Super Panels:

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