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| COVID-19 research v0.40 | KDM6A |
Ellen McDonagh Source Expert Review Green was added to KDM6A. Added phenotypes Combined immunodeficiencies with associated or syndromic features; Kabuki Syndrome 2 due to KDM6A deficiency; 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: KDM6A Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| COVID-19 research v0.36 | KDM6A |
Ellen McDonagh gene: KDM6A was added gene: KDM6A was added to Viral susceptibility. Sources: Expert Review Red,IUIS Classification February 2018,IUIS Classification December 2019 Mode of inheritance for gene: KDM6A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: KDM6A were set to 25142838; 25546742; 26411453; 32086639; 15887282; 15523604; 32048120 Phenotypes for gene: KDM6A were set to Combined immunodeficiencies with associated or syndromic features; Kabuki Syndrome 2 due to KDM6A deficiency; 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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