Genes in panel
STRs in panel
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COVID-19 research

Gene: STN1

Green List (high evidence)

STN1 (STN1, CST complex subunit)
EnsemblGeneIds (GRCh38): ENSG00000107960
EnsemblGeneIds (GRCh37): ENSG00000107960
OMIM: 613128, Gene2Phenotype
STN1 is in 7 panels

2 reviews

Sophie Hambleton (Newcastle University)

Green List (high evidence)

IUIS gene
Created: 7 May 2020, 1:18 p.m. | Last Modified: 7 May 2020, 1:18 p.m.
Panel Version: 0.202

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
syndromic bone marrow failure

Publications

Louise Daugherty (Genomics England Curator)

OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): STN1 .PanelApp HGNC gene symbol check: STN1 . IUIS Disease: Coats plus syndrome due to STN1 deficiency . IUIS Inheritance: AR .T cells: N/A, .B cells: Variable, .IUIS Other affected cells: N/A. IUIS Associated features: Intrauterine growth retardation, premature aging, pancytopenia, hypocellular bone marrow, gastrointestinal hemorrhage due to vascular ectasia, intracranial calcification, abnormal telomeres. IUIS Major category: Combined immunodeficiencies with associated or syndromic features. IUIS Subcategory: DyskeratosIs Congenita (DKC), Myelodysplasia, Short Telomeres
Created: 6 Jul 2018, 12:37 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
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
OMIM
613128
Clinvar variants
Variants in STN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Apr 2020, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Ellen McDonagh (Genomics England Curator)

Source Expert Review Green was added to STN1. Added phenotypes Combined immunodeficiencies with associated or syndromic features; Bone marrow failure; Intrauterine growth retardation, premature aging, pancytopenia, hypocellular bone marrow, gastrointestinal hemorrhage due to vascular ectasia, intracranial calcification, abnormal telomeres for gene: STN1 Rating Changed from Red List (low evidence) to Green List (high evidence)

1 Apr 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: STN1 was added gene: STN1 was added to Viral susceptibility. Sources: IUIS Classification February 2018,IUIS Classification December 2019 Mode of inheritance for gene: STN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STN1 were set to 32086639; 32048120 Phenotypes for gene: STN1 were set to Combined immunodeficiencies with associated or syndromic features; Bone marrow failure; Intrauterine growth retardation, premature aging, pancytopenia, hypocellular bone marrow, gastrointestinal hemorrhage due to vascular ectasia, intracranial calcification, abnormal telomeres