Activity
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| DDG2P v6.17 | MED25 | Achchuthan Shanmugasundram edited their review of gene: MED25: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for MED25-related Basel-Vanagaite-Smirin-Yosef syndrome are definitive, biallelic_autosomal and undetermined (PMIDs: 25527630, 25792360, 31602195, 32324310). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02957.; Changed publications to: 25792360, 25527630, 31602195, 32324310; Changed phenotypes to: MONDO:0014643, MED25-related Basel-Vanagaite-Smirin-Yosef syndrome, Basel-Vanagaite-Smirin-Yosef Syndrome, OMIM:616449, OMIM:616449.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NAGA | Achchuthan Shanmugasundram reviewed gene: NAGA: Rating: GREEN; Mode of pathogenicity: ; Publications: 2564952, 2243144, 8071745, 11251574, 8782044; Phenotypes: KANZAKI DISEASE, OMIM:609242; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MED25 | Achchuthan Shanmugasundram reviewed gene: MED25: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31602195, 25792360, 25527630, 32324310; Phenotypes: Basel-Vanagaite-Smirin-Yosef Syndrome, OMIM:616449; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NAGA | Achchuthan Shanmugasundram Publications for gene: NAGA were updated from 2243144; 8071745 to 2564952; 2243144; 8071745; 11251574; 8782044 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | MED25 |
Achchuthan Shanmugasundram gene: MED25 was added gene: MED25 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MED25 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MED25 were set to 31602195; 25792360; 25527630; 32324310 Phenotypes for gene: MED25 were set to Basel-Vanagaite-Smirin-Yosef Syndrome, OMIM:616449 Mode of pathogenicity for gene: MED25 was set to Other |
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| DDG2P v0.2 | NAGA | Rebecca Foulger reviewed gene: NAGA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | NAGA |
Rebecca Foulger Added phenotypes SCHINDLER DISEASE 609241 for gene: NAGA Publications for gene NAGA were changed from 11251574; 8782044; 2564952 to 2243144; 8071745 |
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| DDG2P v0.1 | NAGA |
Rebecca Foulger gene: NAGA was added gene: NAGA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NAGA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NAGA were set to 11251574; 8782044; 2564952 Phenotypes for gene: NAGA were set to KANZAKI DISEASE 609242 |
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