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| Metal Metabolism Disorders v0.0 | ALAS2 |
Zornitza Stark gene: ALAS2 was added gene: ALAS2 was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service Mode of inheritance for gene: ALAS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: ALAS2 were set to 24003969; 30401706; 10029606; 30098397 Phenotypes for gene: ALAS2 were set to 300752 Protoporphyria, erythropoietic, X-linked; Sideroblastic anaemia - increased serum ferritin; 300751 Anemia, sideroblastic, 1 |
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