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| Ataxia and cerebellar anomalies - narrow panel v3.30 | ABCB7 | Eleanor Williams Tag Q3_21_MOI was removed from gene: ABCB7. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v3.30 | ABCB7 | Eleanor Williams commented on gene: ABCB7 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v3.29 | ABCB7 |
Eleanor Williams 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 |
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| Ataxia and cerebellar anomalies - narrow panel v2.222 | ABCB7 | Ivone Leong Tag Q3_21_MOI tag was added to gene: ABCB7. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.222 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.220 | ABCB7 | Ivone Leong Phenotypes for gene: ABCB7 were changed from Anemia, sideroblastic, with ataxia,; Sideroblastic Anemia and Ataxia to Anemia, sideroblastic, with ataxia, OMIM:301310 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v0.5 | ABCB7 |
Ellen McDonagh 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 |
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