| Panel | Mode of inheritance | Details |
|---|---|---|
7 panels | ||
Component of the following Super Panels:
Signed-off version 5.3 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Anemia, sideroblastic, with ataxia, OMIM:301310 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.3 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes ANEMIA, SIDEROBLASTIC, WITH ATAXIA 301310 |
R-numbers: R96 Signed-off version 2.0 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes 301310 Anemia, sideroblastic, with ataxia |
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 5.6 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Anemia, sideroblastic, with ataxia OMIM:301310, X-linked sideroblastic anemia with ataxia MONDO:0010524 |
Green in Mitochondrial disordersComponent of the following Super Panels:
Signed-off version 6.4 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Disorders of iron homeostasis, Anemia, sideroblastic, with ataxia, congenital cerebellar hypoplasia/atrophy (PMID: 26242992). |
R-numbers: R63 Signed-off version 3.105 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Anemia, sideroblastic, with ataxia, 301310 |
Green in Rare anaemiaR-numbers: R92 Signed-off version 3.0 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Anemia, sideroblastic, with ataxia, Sideroblastic Anemia and Ataxia, 301310 Sideroblastic Anemia and Ataxia, 301310 Sideroblastic anaemia, Anemia, sideroblastic, with ataxia, 301310 |