Primary immunodeficiency or monogenic inflammatory bowel disease

Gene: HYOU1

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.

Created: 3 May 2024, 8:36 p.m. | Last Modified: 3 May 2024, 8:36 p.m.

Panel Version: 5.3

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Green List (high evidence)

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

I don't know

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

• 27913302
• 35549617
• 35822684

Red List (low evidence)

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

• 27913302

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.

Red List (low evidence)

no publications to support link to primary immunodeficiency

Created: 29 Jun 2018, 9:14 p.m.