Activity
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6 actions
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| DDG2P v6.318 | RBM28 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: RBM28 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | RBM28 | Achchuthan Shanmugasundram edited their review of gene: RBM28: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for RBM28-related alopecia, neurologic defects, and endocrinopathy syndrome are limited, biallelic_autosomal and undetermined (PMID:18439547). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00449.; Changed phenotypes to: RBM28-related alopecia, neurologic defects, and endocrinopathy syndrome, OMIM:612079.0, MONDO:0012794, ALOPECIA NEUROLOGIC DEFECTS AND ENDOCRINOPATHY SYNDROME, OMIM:612079 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RBM28 | Achchuthan Shanmugasundram reviewed gene: RBM28: Rating: RED; Mode of pathogenicity: Other; Publications: 18439547; Phenotypes: ALOPECIA NEUROLOGIC DEFECTS AND ENDOCRINOPATHY SYNDROME, OMIM:612079; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | RBM28 | Achchuthan Shanmugasundram Mode of pathogenicity for gene RBM28 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | RBM28 | Rebecca Foulger reviewed gene: RBM28: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | RBM28 |
Rebecca Foulger gene: RBM28 was added gene: RBM28 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: RBM28 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RBM28 were set to 18439547 Phenotypes for gene: RBM28 were set to ALOPECIA NEUROLOGIC DEFECTS AND ENDOCRINOPATHY SYNDROME 612079 Mode of pathogenicity for gene: RBM28 was set to Other - please provide details in the comments |
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