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Primary immunodeficiency or monogenic inflammatory bowel disease v4.48 HYOU1 Achchuthan Shanmugasundram Tag Q4_23_NHS_review tag was added to gene: HYOU1.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.48 HYOU1 Achchuthan Shanmugasundram Classified gene: HYOU1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.48 HYOU1 Achchuthan Shanmugasundram Added comment: Comment on list classification: As listed in the review of Hannah Knight, there are three cases reported with biallelic HYOU1 variants and with phagocytic defects and/ or immunodeficiency. Hence, this gene can be promoted to green rating in the next GMS review.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.48 HYOU1 Achchuthan Shanmugasundram Gene: hyou1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.47 HYOU1 Achchuthan Shanmugasundram Phenotypes for gene: HYOU1 were changed from Hypoglycemia, inflammatory complications; Congenital defects of phagocyte number or function; Immunodeficiency 59 and hypoglycemia, 233600 to ?Immunodeficiency 59 and hypoglycemia, OMIM:233600; Hypoglycemia, inflammatory complications; Congenital defects of phagocyte number or function
Primary immunodeficiency or monogenic inflammatory bowel disease v4.46 HYOU1 Achchuthan Shanmugasundram Publications for gene: HYOU1 were set to 32048120; 32086639; 27913302
Primary immunodeficiency or monogenic inflammatory bowel disease v4.45 HYOU1 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: HYOU1.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.45 HYOU1 Achchuthan Shanmugasundram reviewed gene: HYOU1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ?Immunodeficiency 59 and hypoglycemia, OMIM:233600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v4.35 HYOU1 Hannah Knight reviewed gene: HYOU1: Rating: AMBER; Mode of pathogenicity: None; Publications: 27913302, 35549617, 35822684; Phenotypes: ?Immunodeficiency 59 and hypoglycemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.103 HYOU1 Ivone Leong Phenotypes for gene: HYOU1 were changed from Hypoglycemia, inflammatory complications; Congenital defects of phagocyte number or function to Hypoglycemia, inflammatory complications; Congenital defects of phagocyte number or function; Immunodeficiency 59 and hypoglycemia, 233600
Primary immunodeficiency or monogenic inflammatory bowel disease v2.102 HYOU1 Ivone Leong Publications for gene: HYOU1 were set to 32048120; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 HYOU1 Zornitza Stark reviewed gene: HYOU1: Rating: RED; Mode of pathogenicity: None; Publications: 27913302; Phenotypes: Immunodeficiency 59 and hypoglycemia, MIM# 233600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 HYOU1 Louise Daugherty Source IUIS Classification December 2019 was added to HYOU1.
Mode of inheritance for gene HYOU1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Hypoglycemia, inflammatory complications; Congenital defects of phagocyte number or function for gene: HYOU1
Publications for gene HYOU1 were updated from to 32048120; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease HYOU1 Louise Daugherty marked gene: HYOU1 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease HYOU1 Louise Daugherty commented on gene: HYOU1
Primary immunodeficiency or monogenic inflammatory bowel disease HYOU1 Louise Daugherty reviewed gene: HYOU1
Primary immunodeficiency or monogenic inflammatory bowel disease HYOU1 Sophie Hambleton reviewed gene: HYOU1
Primary immunodeficiency or monogenic inflammatory bowel disease HYOU1 Louise Daugherty Added gene to panel