COVID-19 research
Gene: STN1

STN1 (STN1, CST complex subunit)
EnsemblGeneIds (GRCh38): ENSG00000107960
EnsemblGeneIds (GRCh37): ENSG00000107960
OMIM: 613128, Gene2Phenotype
STN1 is in 12 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

27432940

Created: 7 May 2020, 1:18 p.m.
Last Modified: 7 May 2020, 1:18 p.m.
Panel version: 0.202

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.

Created: 6 Jul 2018, 12:37 p.m.

Panel version: Imported from Primary immunodeficiency panel version 0.1567

Details

Mode of Inheritance

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

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

COVID-19 research Gene: STN1