Defects of intrinsic and innate immunity
Gene: HMOX1
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
Two families reported, functional data.
Sources: Expert listCreated: 5 Apr 2020, 9:02 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Heme oxygenase-1 deficiency, MIM# 614034; Asplenia
Publications
Publications for gene: HMOX1 were set to 21088618; 9884342; 20844238
Gene: hmox1 has been classified as Green List (High Evidence).
Gene: hmox1 has been classified as Amber List (Moderate Evidence).
Gene: hmox1 has been classified as Amber List (Moderate Evidence).
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