| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Photosensitivity Syndromes v0.11 | GATA1 | Zornitza Stark Marked gene: GATA1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Photosensitivity Syndromes v0.11 | GATA1 | Zornitza Stark Gene: gata1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Photosensitivity Syndromes v0.11 | GATA1 | Zornitza Stark Classified gene: GATA1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Photosensitivity Syndromes v0.11 | GATA1 | Zornitza Stark Gene: gata1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Photosensitivity Syndromes v0.9 | GATA1 |
Elena Savva gene: GATA1 was added gene: GATA1 was added to Photosensitivity Syndromes. Sources: Expert list Mode of inheritance for gene: GATA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: GATA1 were set to PMID: 17148589; 25251786 Phenotypes for gene: GATA1 were set to Erythropoietic porphyria Review for gene: GATA1 was set to AMBER Added comment: PMID: 17148589 - 1 hemizygous English/French patient with p.R216W and photosensitive bullous dermatosis PMID: 25251786 - 1 hemizygous Turkish patient with p.R216W and photosensitive bullous dermatosis Sources: Expert list |
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