ABCB7

ATP binding cassette subfamily B member 7
OMIM: 300135
PanelMode of inheritanceDetails
8 panels
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 2.23
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
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
ANEMIA, SIDEROBLASTIC, WITH ATAXIA 301310
R-numbers: R54
Signed-off version 2.13
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, Anemia, sideroblast with ataxia, 300135, Sideroblastic Anemia and Ataxia
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)), congenital cerebellar hypoplasia/atrophy (PMID: 26242992)., Anemia, sideroblastic, with ataxia, Disorders of iron homeostasis
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 2.4
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 1.17
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 1.2
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