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| 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) |
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| 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 |
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