ABCB7

ATP binding cassette subfamily B member 7
OMIM: 300135
PanelMode of inheritanceDetails
7 panels
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 3.1
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, OMIM:301310
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
ANEMIA, SIDEROBLASTIC, WITH ATAXIA 301310
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 3.2
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
R-numbers: R96
Signed-off version 1.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
301310 Anemia, sideroblastic, with ataxia
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 3.1
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 2.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Anemia, sideroblastic, with ataxia, 301310
Green
in Rare anaemia
R-numbers: R92
Signed-off version 2.1
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Anemia, sideroblastic, with ataxia, Sideroblastic Anemia and Ataxia, 301310 Sideroblastic Anemia and Ataxia, 301310 Sideroblastic anaemia, Anemia, sideroblastic, with ataxia, 301310