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STRs in panel
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COVID-19 research

Gene: HYOU1

Green List (high evidence)

HYOU1 (hypoxia up-regulated 1)
EnsemblGeneIds (GRCh38): ENSG00000149428
EnsemblGeneIds (GRCh37): ENSG00000149428
OMIM: 601746, Gene2Phenotype
HYOU1 is in 2 panels

2 reviews

Louise Daugherty (Genomics England Curator)

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.

Sophie Hambleton (Newcastle University)

Red List (low evidence)

no publications to support link to primary immunodeficiency
Created: 29 Jun 2018, 9:14 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Hypoglycemia, inflammatory complications
  • Congenital defects of phagocyte number or function
OMIM
601746
Clinvar variants
Variants in HYOU1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Apr 2020, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Ellen McDonagh (Genomics England Curator)

Source Expert Review Green was added to HYOU1. Added phenotypes Hypoglycemia, inflammatory complications; Congenital defects of phagocyte number or function for gene: HYOU1 Rating Changed from Red List (low evidence) to Green List (high evidence)

1 Apr 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: HYOU1 was added gene: HYOU1 was added to Viral susceptibility. Sources: Expert Review Red,IUIS Classification February 2018,IUIS Classification December 2019 Mode of inheritance for gene: HYOU1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HYOU1 were set to 32086639; 32048120 Phenotypes for gene: HYOU1 were set to Hypoglycemia, inflammatory complications; Congenital defects of phagocyte number or function