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| DDG2P v6.307 | PSMB8 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: PSMB8 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | PSMB8 | Achchuthan Shanmugasundram edited their review of gene: PSMB8: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PSMB8-related Nakajo syndrome are definitive, biallelic_autosomal and loss of function (PMIDs: 21129723, 21852578, 21881205, 21953331, 26524591, 37600812). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00131.; Changed publications to: 26524591, 21129723, 21881205, 37600812, 21852578, 21953331; Changed phenotypes to: NAKAJO SYNDROME, OMIM:256040, OMIM:256040.0, PSMB8-related Nakajo syndrome, MONDO:0054698 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PSMB8 | Achchuthan Shanmugasundram reviewed gene: PSMB8: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21881205, 21953331, 21852578, 21129723; Phenotypes: NAKAJO SYNDROME, OMIM:256040; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PSMB8 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene PSMB8 was changed from Other - please provide details in the comments to Other Publications for gene: PSMB8 were updated from 21852578; 21881205; 21129723; 21953331 to 21881205; 21953331; 21852578; 21129723 |
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| DDG2P v0.2 | PSMB8 | Rebecca Foulger reviewed gene: PSMB8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PSMB8 |
Rebecca Foulger gene: PSMB8 was added gene: PSMB8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PSMB8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PSMB8 were set to 21852578; 21881205; 21129723; 21953331 Phenotypes for gene: PSMB8 were set to NAKAJO SYNDROME 256040 Mode of pathogenicity for gene: PSMB8 was set to Other - please provide details in the comments |
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