Activity
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6 actions
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| DDG2P v6.79 | BICD2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: BICD2 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | BICD2 | Achchuthan Shanmugasundram edited their review of gene: BICD2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for BICD2-related proximal spinal muscular atrophy with brain anomalies are definitive, monoallelic_autosomal and undetermined (PMID:23664120). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00609.; Changed phenotypes to: OMIM:615290.0, BICD2-related proximal spinal muscular atrophy with brain anomalies, Proximal spinal muscular atrophy with brain anomalies | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BICD2 | Achchuthan Shanmugasundram reviewed gene: BICD2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23664120; Phenotypes: Proximal spinal muscular atrophy with brain anomalies; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | BICD2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene BICD2 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | BICD2 | Rebecca Foulger reviewed gene: BICD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | BICD2 |
Rebecca Foulger gene: BICD2 was added gene: BICD2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: BICD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: BICD2 were set to 23664120 Phenotypes for gene: BICD2 were set to PROXIMAL SPINAL MUSCULAR ATROPHY WITH AUTOSOMAL-DOMINANT INHERITANCE Mode of pathogenicity for gene: BICD2 was set to Other - please provide details in the comments |
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