1. Genes and Genomic Entities
  2. STN1

STN1

STN1, CST complex subunit
OMIM: 613128, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels
Green STN1 in Haematological malignancies for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.19

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Curated sources
  • Expert Review Green
Phenotypes
  • Class: BM failure syndrome (typ AR)
  • Dyskeratosis congenita
  • MDS, AML
  • Oral and GI squamous cell carcinoma
Green STN1 in COVID-19 research


Level 2: Viral research
Version 1.147

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • IUIS Classification December 2019
  • IUIS Classification February 2018
Phenotypes
  • Combined immunodeficiencies with associated or syndromic features
  • Intrauterine growth retardation, premature aging, pancytopenia, hypocellular bone marrow, gastrointestinal hemorrhage due to vascular ectasia, intracranial calcification, abnormal telomeres
  • Bone marrow failure
Green STN1 in White matter disorders and cerebral calcification - narrow panel


Level 2: Neurology
Version 7.24
Latest signed off version: v7.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Cerebroretinal microangiopathy with calcifications and cysts 2, OMIM:617341
    Amber STN1 in Ductal plate malformation


    Version 1.31

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Cerebroretinal microangiopathy with calcifications and cysts 2 (617341)
    Amber STN1 in Polycystic liver disease


    Level 2: Gastrohepatology
    Version 1.32
    Latest signed off version: v1.26 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    • NHS GMS
    • Expert list
    Phenotypes
    • Cerebroretinal microangiopathy with calcifications and cysts 2, OMIM:617341
    Red STN1 in Primary immunodeficiency or monogenic inflammatory bowel disease


    Level 2: Immunology
    Version 8.99
    Latest signed off version: v8.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • IUIS Classification December 2019
    • IUIS Classification February 2018
    Phenotypes
    • Intrauterine growth retardation, premature aging, pancytopenia, hypocellular bone marrow, gastrointestinal hemorrhage due to vascular ectasia, intracranial calcification, abnormal telomeres
    • Bone marrow failure
    • Combined immunodeficiencies with associated or syndromic features
    Green STN1 in Haematological malignancies cancer susceptibility


    Level 2: Cancer susceptibility
    Version 4.40
    Latest signed off version: v4.0 (22 Mar 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Curated sources
    Phenotypes
    • Class: BM failure syndrome (typ AR)
    • Dyskeratosis congenita
    • MDS, AML
    • Oral and GI squamous cell carcinoma
    Green STN1 in Childhood onset hereditary spastic paraplegia


    Level 2: Neurology
    Version 8.53
    Latest signed off version: v8.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Cerebroretinal microangiopathy with calcifications and cysts 2 OMIM:617341
    Green STN1 in Cytopenia - NOT Fanconi anaemia


    Level 2: Haematology
    Version 4.32
    Latest signed off version: v4.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Cerebroretinal microangiopathy with calcifications and cysts 2 OMIM:617341
    Green STN1 in DDG2P


    Version 6.447
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Cerebroretinal microangiopathy with calcifications and cysts 2
    Green STN1 in Paediatric disorders - additional genes


    Level 2: Developmental disorders
    Version 7.49
    Latest signed off version: v7.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Cerebroretinal microangiopathy with calcifications and cysts 2 OMIM:617341
    Green STN1 in Retinal disorders


    Level 2: Ophthalmology
    Version 8.127
    Latest signed off version: v8.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert list
    Phenotypes
    • Cerebroretinal microangiopathy with calcifications and cysts 2, OMIM:617341