Activity
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| DDG2P v6.22 | ABCB7 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: ABCB7 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | ABCB7 | Achchuthan Shanmugasundram edited their review of gene: ABCB7: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ABCB7-related anemia, sideroblastic, with ataxia are definitive, monoallelic_X_hemizygous and undetermined (PMIDs: 10196363, 11843825, 22398176, 26242992, 34354969). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00928.; Changed publications to: 10196363, 26242992, 22398176, 11843825, 34354969; Changed phenotypes to: ABCB7-related anemia, sideroblastic, with ataxia, OMIM:301310.0, ANEMIA, SIDEROBLASTIC, WITH ATAXIA, OMIM:301310 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ABCB7 | Achchuthan Shanmugasundram reviewed gene: ABCB7: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: ANEMIA, SIDEROBLASTIC, WITH ATAXIA, OMIM:301310; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ABCB7 | Achchuthan Shanmugasundram Mode of pathogenicity for gene ABCB7 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ABCB7 | Rebecca Foulger reviewed gene: ABCB7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | ABCB7 |
Rebecca Foulger gene: ABCB7 was added gene: ABCB7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ABCB7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ABCB7 were set to ANEMIA, SIDEROBLASTIC, WITH ATAXIA 301310 Mode of pathogenicity for gene: ABCB7 was set to Other - please provide details in the comments |
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