Hereditary ataxia with onset in adulthood
Gene: ABCB7Comment on mode of inheritance: Changed the mode of inheritance now this gene has been demoted to amber on this panel and removed the Q3_21_MOI tag.Created: 16 Mar 2022, 3:53 p.m. | Last Modified: 16 Mar 2022, 3:53 p.m.
Panel Version: 2.149
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, 12:31 p.m. | Last Modified: 19 Jul 2021, 12:31 p.m.
Panel Version: 2.81
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 9 Mar 2022, 5:26 p.m. | Last Modified: 9 Mar 2022, 5:26 p.m.
Panel Version: 2.144
The tag Q2_21_phenotype has been added to this gene, because variants in this gene are associated with childhood onset of ataxia.Created: 26 May 2021, 7:51 a.m. | Last Modified: 26 May 2021, 7:51 a.m.
Panel Version: 2.59
Typically childhood onset.Created: 13 Sep 2020, 8:16 a.m. | Last Modified: 13 Sep 2020, 8:16 a.m.
Panel Version: 2.9
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Anemia, sideroblastic, with ataxia 301310
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.Created: 15 Apr 2019, 10:21 a.m.
At least three families now reported in the literature, appear to be missense variants associated with loss of function (yeast expression models made for mutants in a couple of papers)Created: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Anemia, sideroblast with ataxia, 300135
Mode of pathogenicity
Other - please provide details in the comments
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
Tag Q3_21_MOI was removed from gene: ABCB7.
Tag Q2_21_phenotype was removed from gene: ABCB7.
Source Expert Review Amber was added to ABCB7. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Tag Q3_21_MOI tag was added to gene: ABCB7.
Tag Q2_21_phenotype tag was added to gene: ABCB7.
Phenotypes for gene: ABCB7 were changed from Hypotonia, ataxia, and delayed development syndrome OMIM:617330; hypotonia, ataxia, and delayed development syndrome MONDO:0015021 to Anemia, sideroblastic, with ataxia OMIM:301310; X-linked sideroblastic anemia with ataxia MONDO:0010524
Phenotypes for gene: ABCB7 were changed from Anemia, sideroblastic, with ataxia; Anemia, sideroblast with ataxia, 300135; Sideroblastic Anemia and Ataxia to Hypotonia, ataxia, and delayed development syndrome OMIM:617330; hypotonia, ataxia, and delayed development syndrome MONDO:0015021
Added phenotypes Anemia, sideroblast with ataxia, 300135 for gene: ABCB7
Source NHS GMS was added to ABCB7.
Source Wessex and West Midlands GLH was added to ABCB7.
Checked panel against panel constituents. Ready to promote to version 1.
gene: ABCB7 was added gene: ABCB7 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,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