Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: HYOU1
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.Created: 13 Oct 2023, 5:34 p.m. | Last Modified: 13 Oct 2023, 5:34 p.m.
Panel Version: 4.48
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Immunodeficiency 59 and hypoglycemia, OMIM:233600
As previously, mentioned here, one case reported with biallelic mutations - p.A419P and p.Y231H (PMID: 27913302).
PMID: 35549617 - second case with homozgyous variant (p.Arg486Cys) and anemia, thrombocytopenia and severe panleukopenia and immunodeficiency.
PMID: 35822684 reported a child presenting with neutropenia who was confirmed comp het for two VUS's in HYOU1 (p.Leu23Phe and p.Arg915Gln)Created: 9 Oct 2023, 11:44 a.m. | Last Modified: 9 Oct 2023, 11:44 a.m.
Panel Version: 4.35
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Immunodeficiency 59 and hypoglycemia
Publications
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
Phenotypes
Immunodeficiency 59 and hypoglycemia, MIM# 233600
Publications
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 NeutropeniasCreated: 6 Jul 2018, 12:27 p.m.
no publications to support link to primary immunodeficiencyCreated: 29 Jun 2018, 9:14 p.m.
Tag Q4_23_NHS_review tag was added to gene: HYOU1.
Gene: hyou1 has been classified as Amber List (Moderate Evidence).
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
Publications for gene: HYOU1 were set to 32048120; 32086639; 27913302
Tag Q4_23_promote_green tag was added to gene: HYOU1.
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