Ataxia and cerebellar anomalies - narrow panelGene: ABCB7
Checked against super panel made up of the panel constituents. Ready to promote to version 1.
gene: ABCB7 was added gene: ABCB7 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: ABCB7 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: ABCB7 were set to Anemia, sideroblastic, with ataxia,; Sideroblastic Anemia and Ataxia