COVID-19 research
Gene: SAMD9OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): SAMD9 .PanelApp HGNC gene symbol check: SAMD9 . IUIS Disease: SAMD9 . IUIS Inheritance: AD (GOF) .T cells: N/A, .B cells: Not reported, .IUIS Other affected cells: N/A. IUIS Associated features: IUGR with gonadal abnormalities, adrenal failure, MDS with chromosome 7 aberrations, predisposition to infections, enteropathy, absent spleen. IUIS Major category: Combined immunodeficiencies with associated or syndromic features. IUIS Subcategory: DyskeratosIs Congenita (DKC), Myelodysplasia, Short TelomeresCreated: 6 Jul 2018, 10:37 a.m.
Complex genetics - germline gain-of-function may be superseded by somatic inactivation (including by monosomy 7), resulting in myelodysplasia/AMLCreated: 29 Jun 2018, 4:41 p.m.
Mode of inheritance
Other
Phenotypes
MIRAGE syndrome (Myelodysplasia, Infection, Restriction of growth, Adrenal insufficiency, Genital phenotypes, and Enteropathy); ataxia-thrombocytopenia syndrome
Publications
Source Expert Review Green was added to SAMD9. Added phenotypes IUGR with gonadal abnormalities, adrenal failure, MDS with chromosome 7 aberrations, predisposition to infections, enteropathy, absent spleen; MIRAGE syndrome (Myelodysplasia, Infection, Restriction of growth, Adrenal insufficiency, Genital phenotypes, and Enteropathy); ataxia-thrombocytopenia syndrome; Bone marrow failure; Combined immunodeficiencies with associated or syndromic features for gene: SAMD9 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
gene: SAMD9 was added gene: SAMD9 was added to Viral susceptibility. Sources: IUIS Classification December 2019,IUIS Classification February 2018,Expert Review Amber Mode of inheritance for gene: SAMD9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SAMD9 were set to 29175836; 32086639; 29266745; 29535429; 28487541; 32048120 Phenotypes for gene: SAMD9 were set to IUGR with gonadal abnormalities, adrenal failure, MDS with chromosome 7 aberrations, predisposition to infections, enteropathy, absent spleen; MIRAGE syndrome (Myelodysplasia, Infection, Restriction of growth, Adrenal insufficiency, Genital phenotypes, and Enteropathy); ataxia-thrombocytopenia syndrome; Bone marrow failure; Combined immunodeficiencies with associated or syndromic features