COVID-19 research
Gene: STN1
IUIS geneCreated: 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
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 TelomeresCreated: 6 Jul 2018, 12:37 p.m.
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)
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