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Cutaneous photosensitivity with a likely genetic cause v3.13 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. Monoallelic variants in CPOX have very low clinical penetrance (<1%) and may be challenging to report as diagnostic. Hence, this gene is tagged for MOI Expert Review.
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).
Cutaneous photosensitivity with a likely genetic cause v3.13 CPOX Ida Ertmanska edited their review of gene: CPOX: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cutaneous photosensitivity with a likely genetic cause v3.13 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, this gene is tagged for MOI Expert Review.
CPOX is associated with Coproporphyria 121300 (AR and AD) and Harderoporphyria 618892 (AR) in OMIM (accessed 20th Oct 2025).
Cutaneous photosensitivity with a likely genetic cause v3.13 CPOX Ida Ertmanska Tag Q3_25_expert_review tag was added to gene: CPOX.
Cutaneous photosensitivity with a likely genetic cause v3.13 CPOX Eleanor Williams Added comment: Comment on phenotypes: OMIM phenotypes accessed on 20th October 2025
Cutaneous photosensitivity with a likely genetic cause v3.13 CPOX Eleanor Williams Phenotypes for gene: CPOX were changed from Coproporphyria, OMIM:121300; Harderoporphyria, OMIM:618892 to Coproporphyria, OMIM:121300; Harderoporphyria, OMIM:618892
Cutaneous photosensitivity with a likely genetic cause v3.12 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 to 6886003; 7757079; 8012360; 9454777; 10505225; 11074238; 16159891; 21103937; 23236641; 30828546; 33008663; 40296768
Tag Q3_25_MOI tag was added to CPOX.
Cutaneous photosensitivity with a likely genetic cause v3.11 CPOX Ida Ertmanska reviewed gene: CPOX: Rating: GREEN; Mode of pathogenicity: None; Publications: 6886003, 7757079, 8012360, 9454777, 10505225, 11074238, 16159891, 21103937, 23236641, 30828546, 33008663, 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
Cutaneous photosensitivity with a likely genetic cause v3.9 CPOX Sharon Whatley reviewed gene: CPOX: Rating: GREEN; Mode of pathogenicity: None; Publications: 23236641, 11074238, 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
Cutaneous photosensitivity with a likely genetic cause v0.11 CPOX Catherine Snow Source Expert Review Green was added to CPOX.
Added phenotypes Harderoporphyria 121300; Coproporphyria 121300; Hereditary coproporphyria (Acute neuropathic porphyrias) for gene: CPOX
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cutaneous photosensitivity with a likely genetic cause v0.10 CPOX Catherine Snow reviewed gene: CPOX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cutaneous photosensitivity with a likely genetic cause v0.9 CPOX Catherine Snow gene: CPOX was added
gene: CPOX was added to Cutaneous photosensitivity with a likely genetic cause. Sources: Expert Review
Mode of inheritance for gene: CPOX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CPOX were set to Harderoporphyria 121300; Hereditary coproporphyria (Acute neuropathic porphyrias); Coproporphyria 121300