Genomics England
GMS Panels
Panels
Genes and Entities

ABCB7

ATP binding cassette subfamily B member 7
OMIM: 300135
PanelMode of inheritanceDetails
7 panels
Green
in Ataxia and cerebellar anomalies - narrow panel
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 4.40
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Anemia, sideroblastic, with ataxia, OMIM:301310
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.79
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
ANEMIA, SIDEROBLASTIC, WITH ATAXIA 301310
Green
in Iron metabolism disorders - NOT common HFE mutations
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 metabolism - targeted testing not possible
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 4.78
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 disorders
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 4.114
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).
Green
in Possible mitochondrial disorder - nuclear genes
R-numbers: R63
Signed-off version 3.69
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 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