Hereditary ataxia
Gene: ABCB7Comment 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
Comment when marking as ready: Evidence from expert reviewer and OMIMCreated: 2 Feb 2016, 9:51 a.m.
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
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
Phenotypes for gene: ABCB7 were changed from Anemia, sideroblastic, with ataxia, ; Sideroblastic Anemia and Ataxia to Anemia, sideroblastic, with ataxia, OMIM:301310
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene ABCB7 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
ABCB7 was added to Hereditary ataxiapanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN
Model of inheritance for gene ABCB7 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
ABCB7 was added to Hereditary ataxiapanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN
ABCB7 was added to Hereditary ataxiapanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN