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COVID-19 research v0.40 | TBX1 |
Ellen McDonagh Source Expert Review Green was added to TBX1. Added phenotypes Hypoparathyroidism, conotruncal cardiac malformation, velopalatal insufficiency, abnormal facies, intellectual disability; DiGeorge syndrome 188400; Di George syndrome; T-B+ SCID; Severe combined immunodeficiency (SCID); Combined immunodeficiencies with associated or syndromic features for gene: TBX1 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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COVID-19 research v0.36 | TBX1 |
Ellen McDonagh gene: TBX1 was added gene: TBX1 was added to Viral susceptibility. Sources: ESID Registry 20171117,Victorian Clinical Genetics Services,GRID V2.0,IUIS Classification December 2019,SCID v1.6,IUIS Classification February 2018,Expert Review Amber Mode of inheritance for gene: TBX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TBX1 were set to 11242110; 24198816; 14585638; 32086639; 32048120 Phenotypes for gene: TBX1 were set to Hypoparathyroidism, conotruncal cardiac malformation, velopalatal insufficiency, abnormal facies, intellectual disability; DiGeorge syndrome 188400; Di George syndrome; T-B+ SCID; Severe combined immunodeficiency (SCID); Combined immunodeficiencies with associated or syndromic features |