Activity

Filter

Cancel
Date Panel Item Activity
2 actions
COVID-19 research v0.40 SAMD9L Ellen McDonagh Source Expert Review Green was added to SAMD9L.
Added phenotypes Cytopenia, predisposition to MDS with chromosome 7 aberrations, immunodeficiency, and progressive cerebellar dysfunction; Combined immunodeficiencies with associated or syndromic features; MDS, neurological features; Bone marrow failure for gene: SAMD9L
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
COVID-19 research v0.36 SAMD9L Ellen McDonagh gene: SAMD9L was added
gene: SAMD9L was added to Viral susceptibility. Sources: North West GLH,NHS GMS,London North GLH,IUIS Classification December 2019,IUIS Classification February 2018,Expert Review Amber
Mode of inheritance for gene: SAMD9L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SAMD9L were set to 32086639; 32048120; 28202457
Phenotypes for gene: SAMD9L were set to Cytopenia, predisposition to MDS with chromosome 7 aberrations, immunodeficiency, and progressive cerebellar dysfunction; Combined immunodeficiencies with associated or syndromic features; MDS, neurological features; Bone marrow failure