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
-
- Likely inborn error of metabolism
- Rare anaemia
- Cytopenias and congenital anaemias
- Undiagnosed metabolic disorders
- Intellectual disability
- Hereditary ataxia with onset in adulthood
- Fetal anomalies
- Adult onset neurodegenerative disorder
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Iron metabolism disorders - NOT common HFE mutations
- DDG2P
- Hereditary ataxia
- Ataxia and cerebellar anomalies - narrow panel
- Possible mitochondrial disorder - nuclear genes
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