This Panel is marked as Deleted
Mitochondrial disorders Victorian Clinical Genetics Services
Gene: ABCB7
ABCB7 (ATP binding cassette subfamily B member 7)
EnsemblGeneIds (GRCh38): ENSG00000131269
EnsemblGeneIds (GRCh37): ENSG00000131269
OMIM: 300135, Gene2Phenotype
ABCB7 is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000131269
EnsemblGeneIds (GRCh37): ENSG00000131269
OMIM: 300135, Gene2Phenotype
ABCB7 is in 15 panels
0 reviews
Details
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 300135
- Clinvar variants
- Variants in ABCB7
- Penetrance
- None
- Panels with this gene
-
- Adult onset neurodegenerative disorder
- Rare anaemia
- Cytopenias and congenital anaemias
- Undiagnosed metabolic disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Fetal anomalies
- Mitochondrial disorders
- Hereditary ataxia with onset in adulthood
- Iron metabolism disorders - NOT common HFE mutations
- DDG2P
- Hereditary ataxia
- Possible mitochondrial disorder - nuclear genes
- Likely inborn error of metabolism
- Ataxia and cerebellar anomalies - narrow panel
History Filter Activity
12 Jun 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)ABCB7 was added to Mitochondrial disorders Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
12 Jun 2018, Gel status: 4
Created
Sarah Leigh (Genomics England Curator)ABCB7 was created by Sarah Leigh