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| COVID-19 research v0.180 | SH3KBP1 | Sophie Hambleton reviewed gene: SH3KBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: hypogammaglobulinaemia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| COVID-19 research v0.40 | SH3KBP1 |
Ellen McDonagh Source Expert Review Green was added to SH3KBP1. Added phenotypes Predominantly Antibody Deficiencies; Severe bacterial infections; SH3KBP1 (CIN85) deficiency; Immunodeficiency 61, 300310 for gene: SH3KBP1 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| COVID-19 research v0.36 | SH3KBP1 |
Ellen McDonagh gene: SH3KBP1 was added gene: SH3KBP1 was added to Viral susceptibility. Sources: IUIS Classification December 2019 Mode of inheritance for gene: SH3KBP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SH3KBP1 were set to 32086639; 32048120; 29636373 Phenotypes for gene: SH3KBP1 were set to Predominantly Antibody Deficiencies; Severe bacterial infections; SH3KBP1 (CIN85) deficiency; Immunodeficiency 61, 300310 |
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