Hereditary ataxia
Gene: ABCB7EnsemblGeneIds (GRCh38): ENSG00000131269
EnsemblGeneIds (GRCh37): ENSG00000131269
OMIM: 300135, Gene2Phenotype
ABCB7 is in 15 panels
3 reviews
Ivone Leong (Genomics England Curator)
Comment on mode of inheritance: MOI changed from "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)" to "X-LINKED: hemizygous mutation in males, biallelic mutations in females" as there is no evidence that carrier females have ataxia.Created: 19 Jul 2021, 12:32 p.m. | Last Modified: 19 Jul 2021, 12:32 p.m.
Panel Version: 1.235
Damian Smedley (Genomics England Curator)
Comment when marking as ready: Evidence from expert reviewer and OMIMCreated: 2 Feb 2016, 9:51 a.m.
Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)
Fine. Lots of evidence in literatureCreated: 24 Nov 2015, 4:56 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)
Phenotypes
Anemia, sideroblastic, with ataxia, ; Sideroblastic Anemia and Ataxia
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Anemia, sideroblastic, with ataxia, OMIM:301310
- OMIM
- 300135
- Clinvar variants
- Variants in ABCB7
- Penetrance
- Complete
- Panels with this gene
-
- Cytopenias and congenital anaemias
- Mitochondrial disorders
- DDG2P
- Fetal anomalies
- Rare anaemia
- Adult onset neurodegenerative disorder
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- Possible mitochondrial disorder - nuclear genes
- Iron metabolism disorders - NOT common HFE mutations
- Hereditary ataxia
- Undiagnosed metabolic disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set mode of inheritance
Ivone Leong (Genomics England Curator)Mode of inheritance for gene: ABCB7 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: ABCB7 were changed from Anemia, sideroblastic, with ataxia, ; Sideroblastic Anemia and Ataxia to Anemia, sideroblastic, with ataxia, OMIM:301310
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene ABCB7 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Added New Source
Ellen McDonagh (Genomics England Curator)ABCB7 was added to Hereditary ataxiapanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene ABCB7 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Added New Source
Ellen McDonagh (Genomics England Curator)ABCB7 was added to Hereditary ataxiapanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN
Added New Source
Ellen McDonagh (Genomics England Curator)ABCB7 was added to Hereditary ataxiapanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN