Possible mitochondrial disorder - nuclear genes
Gene: ABCB7EnsemblGeneIds (GRCh38): ENSG00000131269
EnsemblGeneIds (GRCh37): ENSG00000131269
OMIM: 300135, Gene2Phenotype
ABCB7 is in 15 panels
3 reviews
Ivone Leong (Genomics England Curator)
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Anemia, sideroblastic, with ataxia, 301310
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Clear disease-causing gene.Created: 25 Apr 2016, 12:21 p.m.
Comment on list classification: A confirmed DD gene for ANEMIA, SIDEROBLASTIC, WITH ATAXIA.
Created: 22 Apr 2016, 9:39 a.m.
Shamima Rahman (UCL Institute of Child Health)
mitochondrial iron transporterCreated: 6 Feb 2016, 10:52 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Anemia, sideroblastic, with ataxia, 301310
- OMIM
- 300135
- Clinvar variants
- Variants in ABCB7
- Penetrance
- None
- Panels with this gene
-
- Ataxia and cerebellar anomalies - narrow panel
- DDG2P
- Undiagnosed metabolic disorders
- Cytopenias and congenital anaemias
- Fetal anomalies
- Childhood onset dystonia, chorea or related movement disorder
- Rare anaemia
- Adult onset neurodegenerative disorder
- Likely inborn error of metabolism
- Mitochondrial disorders
- Intellectual disability
- Iron metabolism disorders - NOT common HFE mutations
- Hereditary ataxia
- Possible mitochondrial disorder - nuclear genes
- Hereditary ataxia with onset in adulthood
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: ABCB7 was added gene: ABCB7 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ABCB7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ABCB7 were set to Anemia, sideroblastic, with ataxia, 301310