PanelApp
  1. Genes and Genomic Entities
  2. STN1

STN1

STN1 subunit of CST complex
OMIM: 613128, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green STN1 in Haematological malignancies


Level 2: Cancer susceptibility
Version 0.148

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Curated sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Oral and GI squamous cell carcinoma
  • MDS, AML
  • Dyskeratosis congenita
  • Class: BM failure syndrome (typ AR)

Green STN1 in Bone Marrow Failure


Level 2: Haematological disorders
Version 2.9

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 3.0

    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 2.588

    		2 reviews 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 2.145

    		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 1.2

    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 2.0

    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