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Cutaneous photosensitivity with a likely genetic cause v1.8 GATA1 Ivone Leong Tag Q3_21_rating tag was added to gene: GATA1.
Cutaneous photosensitivity with a likely genetic cause v1.8 GATA1 Ivone Leong Tag Q3_21_expert_review tag was added to gene: GATA1.
Cutaneous photosensitivity with a likely genetic cause v1.8 GATA1 Ivone Leong reviewed gene: GATA1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cutaneous photosensitivity with a likely genetic cause v1.8 GATA1 Ivone Leong Publications for gene: GATA1 were set to
Cutaneous photosensitivity with a likely genetic cause v1.3 GATA1 Zornitza Stark changed review comment from: Can only find two reports in the literature, same missense variant: 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.; to: Can only find two reports in the literature for this phenotype, same missense variant: 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.
Cutaneous photosensitivity with a likely genetic cause v1.3 GATA1 Zornitza Stark reviewed gene: GATA1: Rating: AMBER; Mode of pathogenicity: None; Publications: 17148589, 25251786; Phenotypes: Erythropoietic porphyria; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cutaneous photosensitivity with a likely genetic cause v0.11 GATA1 Catherine Snow Source Expert Review Green was added to GATA1.
Added phenotypes Congenital erythropoietic porphyria; Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367 for gene: GATA1
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cutaneous photosensitivity with a likely genetic cause v0.10 GATA1 Catherine Snow reviewed gene: GATA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cutaneous photosensitivity with a likely genetic cause v0.9 GATA1 Catherine Snow gene: GATA1 was added
gene: GATA1 was added to Cutaneous photosensitivity with a likely genetic cause. Sources: Expert Review
Mode of inheritance for gene: GATA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GATA1 were set to Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367; Congenital erythropoietic porphyria