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Cutaneous photosensitivity with a likely genetic cause v3.15 FECH Ida Ertmanska Added comment: Comment on phenotypes: OMIM phenotype accessed 26th Nov 2025.
Cutaneous photosensitivity with a likely genetic cause v3.15 FECH Ida Ertmanska Phenotypes for gene: FECH were changed from Erythropoietic Protoporphyria; Protoporphyria, erythropoietic, autosomal recessive, 177000 to Protoporphyria, erythropoietic, 1, OMIM:177000; protoporphyria, erythropoietic, 1, MONDO:0008319
Cutaneous photosensitivity with a likely genetic cause v3.14 FECH Ida Ertmanska Publications for gene: FECH were set to
Cutaneous photosensitivity with a likely genetic cause v3.9 FECH Sharon Whatley reviewed gene: FECH: Rating: GREEN; Mode of pathogenicity: None; Publications: 7857832, 16911284, 39969427, 32873934, 38940544, 11753383, 16385445; Phenotypes: 177000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cutaneous photosensitivity with a likely genetic cause v0.11 FECH Catherine Snow Added phenotypes Erythropoietic Protoporphyria; Protoporphyria, erythropoietic, autosomal recessive, 177000 for gene: FECH
Cutaneous photosensitivity with a likely genetic cause v0.11 FECH Catherine Snow Source Expert Review Green was added to FECH.
Added phenotypes Erythropoietic Protoporphyria; Protoporphyria, erythropoietic, autosomal recessive, 177000 for gene: FECH
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cutaneous photosensitivity with a likely genetic cause v0.10 FECH Catherine Snow commented on gene: FECH: Following discussion with the Genomics England clinical team it was agreed that genes associated with porphyrias should be included on this panel. Therefore added to panel as a Green gene.
Cutaneous photosensitivity with a likely genetic cause v0.10 FECH Catherine Snow reviewed gene: FECH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cutaneous photosensitivity with a likely genetic cause v0.9 FECH Catherine Snow Added phenotypes Erythropoietic Protoporphyria; Protoporphyria, erythropoietic, autosomal recessive, 177000 for gene: FECH
Cutaneous photosensitivity with a likely genetic cause v0.9 FECH Catherine Snow gene: FECH was added
gene: FECH was added to Cutaneous photosensitivity with a likely genetic cause. Sources: Expert Review
Mode of inheritance for gene: FECH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FECH were set to Erythropoietic Protoporphyria; Protoporphyria, erythropoietic, autosomal recessive, 177000