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Mitochondrial disorders v4.160 | ALAS2 | Arina Puzriakova Phenotypes for gene: ALAS2 were changed from Anemia, sideroblastic, 1 300751; Protoporphyria, erythropoietic, X-linked 300752 to Anemia, sideroblastic, 1, OMIM:300751; Protoporphyria, erythropoietic, X-linked, OMIM:300752 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v1.426 | ALAS2 | Sarah Leigh Phenotypes for gene: ALAS2 were changed from to Anemia, sideroblastic, 1 300751; Protoporphyria, erythropoietic, X-linked 300752 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v1.426 | ALAS2 | Sarah Leigh Publications for gene: ALAS2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v1.423 | ALAS2 | Sarah Leigh reviewed gene: ALAS2: Rating: RED; Mode of pathogenicity: ; Publications: 29903433; Phenotypes: Anemia, sideroblastic, 1 300751, Protoporphyria, erythropoietic, X-linked 300752; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v1.422 | ALAS2 |
Sarah Leigh gene: ALAS2 was added gene: ALAS2 was added to Mitochondrial disorders. Sources: Expert list Mode of inheritance for gene: ALAS2 was set to |