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Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 HMOX1 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: HMOX1.
Tag Q4_23_NHS_review was removed from gene: HMOX1.
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 HMOX1 Sarah Leigh reviewed gene: HMOX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v5.2 HMOX1 Achchuthan Shanmugasundram Source NHS GMS was added to HMOX1.
Source Expert Review Green was added to HMOX1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.48 HMOX1 Achchuthan Shanmugasundram Tag Q4_23_NHS_review tag was added to gene: HMOX1.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.45 HMOX1 Achchuthan Shanmugasundram Classified gene: HMOX1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.45 HMOX1 Achchuthan Shanmugasundram Added comment: Comment on list classification: As listed in the review of Hannah Knight, there are more than three unrelated cases with biallelic HMOX1 variants reported with asplenia. In addition, recurrent infections, recurrent fever, generalized erythematous rash, hemolysis, inflammation, nephritis, and joint pain were reported in these cases. Hence, this gene can be promoted to green rating in the next GMS review.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.45 HMOX1 Achchuthan Shanmugasundram Gene: hmox1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.44 HMOX1 Achchuthan Shanmugasundram Deleted their comment
Primary immunodeficiency or monogenic inflammatory bowel disease v4.44 HMOX1 Achchuthan Shanmugasundram Phenotypes for gene: HMOX1 were changed from Hemolysis, nephritis, inflammation; Defects in Intrinsic and Innate Immunity; amyloidosis to Heme oxygenase-1 deficiency, OMIM:614034; Hemolysis, nephritis, inflammation; Defects in Intrinsic and Innate Immunity; amyloidosis
Primary immunodeficiency or monogenic inflammatory bowel disease v4.43 HMOX1 Achchuthan Shanmugasundram Publications for gene: HMOX1 were set to 9884342; 21088618; 22023467; 26526137; 3306677
Primary immunodeficiency or monogenic inflammatory bowel disease v4.42 HMOX1 Achchuthan Shanmugasundram Added comment: Comment on publications: As listed in the review of Hannah Knight, there are more than three unrelated cases with biallelic HMOX1 variants reported with asplenia. In addition, recurrent infections, recurrent fever, generalized erythematous rash, hemolysis, inflammation, nephritis, and joint pain were reported in these cases. Hence, this gene can be promoted to green rating in the next GMS review.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.42 HMOX1 Achchuthan Shanmugasundram Publications for gene: HMOX1 were set to 9884342; 21088618
Primary immunodeficiency or monogenic inflammatory bowel disease v4.41 HMOX1 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: HMOX1.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.41 HMOX1 Achchuthan Shanmugasundram reviewed gene: HMOX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Heme oxygenase-1 deficiency, OMIM:614034; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v4.35 HMOX1 Hannah Knight reviewed gene: HMOX1: Rating: AMBER; Mode of pathogenicity: None; Publications: 3306677, 9884342, 21088618, 22023467, 26526137; Phenotypes: Heme oxygenase-1 deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease HMOX1 Louise Daugherty marked gene: HMOX1 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease HMOX1 Louise Daugherty commented on gene: HMOX1
Primary immunodeficiency or monogenic inflammatory bowel disease HMOX1 Louise Daugherty reviewed gene: HMOX1
Primary immunodeficiency or monogenic inflammatory bowel disease HMOX1 Sophie Hambleton reviewed gene: HMOX1
Primary immunodeficiency or monogenic inflammatory bowel disease HMOX1 Louise Daugherty Added gene to panel