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STRs in panel
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Primary immunodeficiency

Gene: HYOU1

Red List (low evidence)

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

3 reviews

Zornitza Stark (Australian Genomics)

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

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
  • IUIS Classification December 2019
  • Expert Review Red
  • IUIS Classification February 2018
Phenotypes
  • Hypoglycemia, inflammatory complications
  • Congenital defects of phagocyte number or function
  • Immunodeficiency 59 and hypoglycemia, 233600
OMIM
601746
Clinvar variants
Variants in HYOU1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Apr 2020, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

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

17 Apr 2020, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: HYOU1 were set to 32048120; 32086639

28 Feb 2020, Gel status: 1

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

Louise Daugherty (Genomics England Curator)

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

12 Jul 2018, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

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.

6 Jul 2018, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: hyou1 has been classified as Red List (Low Evidence).

1 Jul 2018, Gel status: 1

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene HYOU1 were set to Hypoglycemia, inflammatory complications, Congenital defects of phagocyte number or function

26 Jun 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

HYOU1 was added to Primary immunodeficiency disorders panel. Sources: IUIS Classification February 2018

26 Jun 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

HYOU1 was created by Louise Daugherty