| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Photosensitivity Syndromes v0.10 | FECH | Zornitza Stark Marked gene: FECH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Photosensitivity Syndromes v0.10 | FECH | Zornitza Stark Gene: fech has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Photosensitivity Syndromes v0.10 | FECH | Zornitza Stark Classified gene: FECH as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Photosensitivity Syndromes v0.10 | FECH | Zornitza Stark Gene: fech has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Photosensitivity Syndromes v0.9 | FECH |
Elena Savva gene: FECH was added gene: FECH was added to Photosensitivity Syndromes. Sources: Expert list Mode of inheritance for gene: FECH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FECH were set to PMID: 31304091; 17875872 Phenotypes for gene: FECH were set to Protoporphyria, erythropoietic, 1 177000 Review for gene: FECH was set to GREEN Added comment: PMID: 31304091 - 1 family (3 patients) with cutaneous photosensitivity and erythropoietic protoporphyria (EPP) PMID: 17875872 - 11 unrelated patients with Erythropoietic Protoporphyria and acute cutaneous photo-sensitivity. 10/11 were heterozygous for the common variant c.333-48T>C w/ a 2nd mutation. c.333-48T>C is a common variant with functional studies, but has almost 4000 homozygotes in the population with 35% frequency in Latino and East Asian groups. Most recently classed as pathogenic (ClinVar). Sources: Expert list |
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