Ataxia and cerebellar anomalies - narrow panel
Gene: ABCB7EnsemblGeneIds (GRCh38): ENSG00000131269
EnsemblGeneIds (GRCh37): ENSG00000131269
OMIM: 300135, Gene2Phenotype
ABCB7 is in 15 panels
2 reviews
Eleanor Williams (Genomics England Curator)
The mode of inheritance of this gene has been updated to X-LINKED: hemizygous mutation in males, biallelic mutations in females following NHS Genomic Medicine Service approval.Created: 5 Feb 2023, 5:18 p.m. | Last Modified: 5 Feb 2023, 5:18 p.m.
Panel Version: 3.30
Ivone Leong (Genomics England Curator)
MOI should be 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, 12:29 p.m. | Last Modified: 19 Jul 2021, 12:29 p.m.
Panel Version: 2.222
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
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, OMIM:301310
- OMIM
- 300135
- Clinvar variants
- Variants in ABCB7
- Penetrance
- None
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Cytopenias and congenital anaemias
- Childhood onset dystonia, chorea or related movement disorder
- Fetal anomalies
- Rare anaemia
- Adult onset neurodegenerative disorder
- Ataxia and cerebellar anomalies - narrow panel
- Likely inborn error of metabolism
- Mitochondrial disorders
- Hereditary ataxia with onset in adulthood
- DDG2P
- Iron metabolism disorders - NOT common HFE mutations
- Intellectual disability
- Hereditary ataxia
- Possible mitochondrial disorder - nuclear genes
History Filter Activity
Removed Tag
Eleanor Williams (Genomics England Curator)Tag Q3_21_MOI was removed from gene: ABCB7.
Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to ABCB7. 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
Added Tag
Ivone Leong (Genomics England Curator)Tag Q3_21_MOI tag was added to gene: ABCB7.
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
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: ABCB7 was added gene: ABCB7 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: ABCB7 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: ABCB7 were set to Anemia, sideroblastic, with ataxia,; Sideroblastic Anemia and Ataxia