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Haematological malignancies for rare disease

Gene: STN1

Green List (high evidence)
STN1 (STN1, CST complex subunit)
EnsemblGeneIds (GRCh38): ENSG00000107960
EnsemblGeneIds (GRCh37): ENSG00000107960
OMIM: 613128, Gene2Phenotype
STN1 is in 12 panels

2 reviews

Clare Turnbull (Queen Mary University London)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Created: 26 Jul 2017, 11:15 a.m.

Panel version: Imported from Haematological malignancies pertinent cancer susceptibility panel version 0.8

Ellen McDonagh (Genomics England Curator)

The new HGNC-approved symbol for this gene is STN1.
Created: 21 Jun 2017, 12:28 p.m.
Created: 21 Jun 2017, 12:28 p.m.

Panel version: Imported from Haematological malignancies pertinent cancer susceptibility panel version 0.3

Details

Mode of Inheritance
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
OMIM
613128
Clinvar variants
Variants in STN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Aug 2018, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

22nd August 2018: Reviewed by Helen Brittain, and suggested changes approved by Clare Turnbull. Changes made prior to promoting to version 1.

10 Apr 2018, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

STN1 was added to Haematological malignancies for rare disease panel. Sources: Curated sources,Expert Review Green

10 Apr 2018, Gel status: 4

Created

Ellen McDonagh (Genomics England Curator)

STN1 was created by Ellen McDonagh