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Primary immunodeficiency or monogenic inflammatory bowel disease v2.101 MKL1 Ivone Leong Classified gene: MKL1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.101 MKL1 Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber based on expert review and additional of second case.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.101 MKL1 Ivone Leong Gene: mkl1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.100 MKL1 Ivone Leong Publications for gene: MKL1 were set to 32048120; 26224645; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 MKL1 Zornitza Stark reviewed gene: MKL1: Rating: AMBER; Mode of pathogenicity: None; Publications: 32128589, 26224645; Phenotypes: Neutropaenia with combined immune deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 MKL1 Louise Daugherty Source IUIS Classification December 2019 was added to MKL1.
Added phenotypes Mild thrombocytopenia; Congenital defects of phagocyte number or function for gene: MKL1
Publications for gene MKL1 were updated from 26224645 to 32048120; 26224645; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease MKL1 Louise Daugherty marked gene: MKL1 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease MKL1 Louise Daugherty edited their review of gene: MKL1
Primary immunodeficiency or monogenic inflammatory bowel disease MKL1 Sophie Hambleton reviewed gene: MKL1
Primary immunodeficiency or monogenic inflammatory bowel disease MKL1 Louise Daugherty commented on gene: MKL1
Primary immunodeficiency or monogenic inflammatory bowel disease MKL1 Louise Daugherty Added gene to panel