Primary immunodeficiencyGene: HYOU1
Single individual reported.
Created: 10 Apr 2020, 7:50 a.m. | Last Modified: 10 Apr 2020, 7:50 a.m.
Panel Version: 2.51
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Immunodeficiency 59 and hypoglycemia, MIM# 233600
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): HYOU1 .PanelApp HGNC gene symbol check: HYOU1 . IUIS Disease: HYOU1 deficiency . IUIS Inheritance: AR .T cells: N/A, .B cells: N/A, .IUIS Other affected cells: N. IUIS Associated features: Hypoglycemia, inflammatory complications. IUIS Major category: Congenital defects of phagocyte number or function. IUIS Subcategory: Congenital Neutropenias
Created: 6 Jul 2018, 12:27 p.m.
no publications to support link to primary immunodeficiency
Created: 29 Jun 2018, 9:14 p.m.
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
Publications for gene: HYOU1 were set to 32048120; 32086639
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
2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.
Gene: hyou1 has been classified as Red List (Low Evidence).
Phenotypes for gene HYOU1 were set to Hypoglycemia, inflammatory complications, Congenital defects of phagocyte number or function
HYOU1 was added to Primary immunodeficiency disorders panel. Sources: IUIS Classification February 2018
HYOU1 was created by Louise Daugherty