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| COVID-19 research v0.40 | KMT2D |
Ellen McDonagh Source Expert Review Green was added to KMT2D. Added phenotypes Kabuki syndrome 1, 147920; Combined immunodeficiencies with associated or syndromic features; Typical facial abnormalities, cleft or high arched palate, skeletal abnormalities, short stature, intellectual disability, congenital heart defects, recurrent infections (otitis media, pneumonia) in 50% of patients. Autoimmunity may be present for gene: KMT2D Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| COVID-19 research v0.36 | KMT2D |
Ellen McDonagh gene: KMT2D was added gene: KMT2D was added to Viral susceptibility. Sources: Expert Review Red,IUIS Classification February 2018,IUIS Classification December 2019 Mode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KMT2D were set to 25142838; 26411453; 32086639; 15887282; 15523604; 32048120 Phenotypes for gene: KMT2D were set to Kabuki syndrome 1, 147920; Combined immunodeficiencies with associated or syndromic features; Typical facial abnormalities, cleft or high arched palate, skeletal abnormalities, short stature, intellectual disability, congenital heart defects, recurrent infections (otitis media, pneumonia) in 50% of patients. Autoimmunity may be present |
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