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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 |
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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 |