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Hereditary ataxia with onset in adulthood v2.149 ABCB7 Eleanor Williams Added comment: Comment 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.
Hereditary ataxia with onset in adulthood v2.149 ABCB7 Eleanor Williams 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
Hereditary ataxia with onset in adulthood v2.148 ABCB7 Eleanor Williams Tag Q3_21_MOI was removed from gene: ABCB7.
Hereditary ataxia with onset in adulthood v2.144 ABCB7 Eleanor Williams Tag Q2_21_phenotype was removed from gene: ABCB7.
Hereditary ataxia with onset in adulthood v2.144 ABCB7 Sarah Leigh commented on gene: ABCB7: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Hereditary ataxia with onset in adulthood v2.143 ABCB7 Eleanor Williams Source Expert Review Amber was added to ABCB7.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Hereditary ataxia with onset in adulthood v2.81 ABCB7 Arina Puzriakova Tag Q3_21_MOI tag was added to gene: ABCB7.
Hereditary ataxia with onset in adulthood v2.81 ABCB7 Ivone Leong reviewed gene: ABCB7: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hereditary ataxia with onset in adulthood v2.59 ABCB7 Sarah Leigh Tag Q2_21_phenotype tag was added to gene: ABCB7.
Hereditary ataxia with onset in adulthood v2.59 ABCB7 Sarah Leigh commented on gene: ABCB7
Hereditary ataxia with onset in adulthood v2.59 ABCB7 Sarah Leigh 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
Hereditary ataxia with onset in adulthood v2.58 ABCB7 Sarah Leigh 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
Hereditary ataxia with onset in adulthood v2.9 ABCB7 Zornitza Stark reviewed gene: ABCB7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Anemia, sideroblastic, with ataxia 301310; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hereditary ataxia with onset in adulthood v1.9 ABCB7 Louise Daugherty Added phenotypes Anemia, sideroblast with ataxia, 300135 for gene: ABCB7
Hereditary ataxia with onset in adulthood v1.8 ABCB7 Louise Daugherty reviewed gene: ABCB7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.7 ABCB7 Tracy Lester reviewed gene: ABCB7: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Anemia, sideroblast with ataxia, 300135; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.2 ABCB7 Louise Daugherty Source NHS GMS was added to ABCB7.
Hereditary ataxia with onset in adulthood v1.1 ABCB7 Louise Daugherty Source Wessex and West Midlands GLH was added to ABCB7.
Hereditary ataxia with onset in adulthood v0.2 ABCB7 Eleanor Williams 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