Defects of intrinsic and innate immunity

Gene: HMOX1

Green List (high evidence)

HMOX1 (heme oxygenase 1)
EnsemblGeneIds (GRCh38): ENSG00000100292
EnsemblGeneIds (GRCh37): ENSG00000100292
OMIM: 141250, Gene2Phenotype
HMOX1 is in 3 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England)

Green List (high evidence)

In addition to the two cases mentioned in the previous reviews, PMID:33066778 provides a third case in support of promoting HMOX1 to green rating. This third case is a boy born to nonconsanguineous parents who presented with early onset asplenia, recurrent infections, and associated flares with bone marrow histiocyte activation with worsening interstitial lung disease and joint pain. This boy harboured compound heterozygous variants (p.L89Sfs*24 and p.Ala88Profs*51).
Created: 13 Oct 2023, 5:09 p.m. | Last Modified: 13 Oct 2023, 5:09 p.m.
Panel Version: 0.130

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Heme oxygenase-1 deficiency, OMIM:614034

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two families reported, functional data.
Sources: Expert list
Created: 5 Apr 2020, 9:02 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Heme oxygenase-1 deficiency, MIM# 614034; Asplenia

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Heme oxygenase-1 deficiency, MIM# 614034
  • Asplenia
OMIM
141250
Clinvar variants
Variants in HMOX1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Oct 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: HMOX1 were set to 21088618; 9884342; 20844238

15 Oct 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hmox1 has been classified as Green List (High Evidence).

5 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hmox1 has been classified as Amber List (Moderate Evidence).

5 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hmox1 has been classified as Amber List (Moderate Evidence).

5 Apr 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HMOX1 was added gene: HMOX1 was added to Defects of innate immunity. Sources: Expert list Mode of inheritance for gene: HMOX1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HMOX1 were set to 21088618; 9884342; 20844238 Phenotypes for gene: HMOX1 were set to Heme oxygenase-1 deficiency, MIM# 614034; Asplenia Review for gene: HMOX1 was set to AMBER