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STRs in panel
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Primary immunodeficiency

Gene: HMOX1

Red List (low evidence)

HMOX1 (heme oxygenase 1)
EnsemblGeneIds (GRCh38): ENSG00000100292
EnsemblGeneIds (GRCh37): ENSG00000100292
OMIM: 141250, Gene2Phenotype
HMOX1 is in 2 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Comment on publications: Added publications suggested from external expert review
Created: 6 Jul 2018, 12:42 p.m.
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): HMOX .PanelApp HGNC gene symbol check: HMOX1 . IUIS Disease: Isolated congenital asplenia (ICA) due to HMOX deficiency . IUIS Inheritance: AR .T cells: N/A, .B cells: N/A, .IUIS Other affected cells: Macrophages. IUIS Associated features: Hemolysis, nephritis, inflammation. IUIS Major category: Defects in Intrinsic and Innate Immunity. IUIS Subcategory: Other Inborn Errors of Immunity Related to Non-Hematopoietic Tissues
Created: 6 Jul 2018, 12:20 p.m.

Sophie Hambleton (Newcastle University)

Red List (low evidence)

Only one report of asplenia as part of this syndrome (phenotype dominated by haemolysis, endothelial inflammation)
Created: 29 Jun 2018, 8:54 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
haemolysis; nephritis; asplenia; amyloidosis

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • IUIS Classification February 2018
Phenotypes
  • Hemolysis, nephritis, inflammation
  • Defects in Intrinsic and Innate Immunity
  • amyloidosis
OMIM
141250
Clinvar variants
Variants in HMOX1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

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: hmox1 has been classified as Red List (Low Evidence).

6 Jul 2018, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: HMOX1 was changed from to BIALLELIC, autosomal or pseudoautosomal

6 Jul 2018, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: HMOX1 were set to Hemolysis, nephritis, inflammation; Defects in Intrinsic and Innate Immunity; amyloidosis

6 Jul 2018, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: HMOX1 were set to 9884342; 21088618

1 Jul 2018, Gel status: 1

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene HMOX1 were set to Hemolysis, nephritis, inflammation, Defects in Intrinsic and Innate Immunity

26 Jun 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

HMOX1 was added to Primary immunodeficiency disorders panel. Sources: IUIS Classification February 2018

26 Jun 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

HMOX1 was created by Louise Daugherty