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Likely inborn error of metabolism v8.94 CPOX Achchuthan Shanmugasundram Tag Q3_25_MOI was removed from gene: CPOX.
Tag Q3_25_expert_review was removed from gene: CPOX.
Likely inborn error of metabolism v8.94 CPOX Achchuthan Shanmugasundram commented on gene: CPOX
Likely inborn error of metabolism v8.93 CPOX Achchuthan Shanmugasundram Mode of inheritance for gene CPOX was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v8.82 CPOX Ida Ertmanska changed review comment from: Comment on mode of inheritance: As reviewed by Sharon Whatley, variants in CPOX may cause autosomal dominant or autosomal recessive porphyria. Biallelic variants tend to cause earlier onset and more severe symptoms. Hence, the MOI should be changed from 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' to 'BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal'.
CPOX is associated with Coproporphyria 121300 (AR and AD) and Harderoporphyria 618892 (AR) in OMIM (accessed 20th Oct 2025).; to: Comment on mode of inheritance: As reviewed by Sharon Whatley, variants in CPOX may cause autosomal dominant or autosomal recessive porphyria. Monoallelic variants in CPOX have very low clinical penetrance (<1%) and may be challenging to report as diagnostic. Hence, BIALLELIC, autosomal or pseudoautosomal MOI would be more appropriate. This gene has been tagged for MOI Expert Review. CPOX is associated with Coproporphyria 121300 (AR and AD) and Harderoporphyria 618892 (AR) in OMIM (accessed 20th Oct 2025).
Likely inborn error of metabolism v8.82 CPOX Ida Ertmanska Tag Q3_25_expert_review tag was added to gene: CPOX.
Likely inborn error of metabolism v8.82 CPOX Ida Ertmanska edited their review of gene: CPOX: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v8.69 CPOX Ida Ertmanska Phenotypes for gene: CPOX were changed from Harderoporphyria 121300; Coproporphyria 121300; Hereditary coproporphyria (Acute neuropathic porphyrias) to Coproporphyria, OMIM:121300; Harderoporphyria, OMIM:618892
Publications for gene: CPOX were updated from 27604308 to 6886003; 7757079; 8012360; 9454777; 10505225; 11074238; 11309681; 16159891; 21103937; 23236641; 23605133; 30828546; 33008663; 37540847; 38940544; 40296768
Tag Q3_25_MOI tag was added to CPOX.
Likely inborn error of metabolism v8.68 CPOX Ida Ertmanska reviewed gene: CPOX: Rating: GREEN; Mode of pathogenicity: None; Publications: 6886003, 7757079, 8012360, 9454777, 10505225, 11074238, 11309681, 16159891, 21103937, 23236641, 23605133, 30828546, 33008663, 37540847, 38940544, 40296768; Phenotypes: Coproporphyria, OMIM:121300, Harderoporphyria, OMIM:618892; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Likely inborn error of metabolism v8.58 CPOX Sharon Whatley reviewed gene: CPOX: Rating: GREEN; Mode of pathogenicity: None; Publications: 38940544, 11309681, 23236641, 11074238, 23605133, 16159891, 40296768, 33008663, 30828546, 21103937, 16159891, 10505225, 9454777, 7757079, 8012360, 6886003; Phenotypes: 121300, 618892; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Likely inborn error of metabolism v1.47 CPOX Ivone Leong Source NHS GMS was added to CPOX.
Source London North GLH was added to CPOX.
Likely inborn error of metabolism v0.4 CPOX Ellen McDonagh gene: CPOX was added
gene: CPOX was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: CPOX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CPOX were set to 27604308
Phenotypes for gene: CPOX were set to Harderoporphyria 121300; Coproporphyria 121300; Hereditary coproporphyria (Acute neuropathic porphyrias)