Activity
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6 actions
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| DDG2P v6.386 | TPRKB | Achchuthan Shanmugasundram Mode of pathogenicity for gene: TPRKB was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | TPRKB | Achchuthan Shanmugasundram edited their review of gene: TPRKB: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TPRKB-related Galloway-Mowat syndrome are limited, biallelic_autosomal and undetermined (PMID:28805828). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02820.; Changed phenotypes to: TPRKB-related Galloway-Mowat syndrome, MONDO:0033009, OMIM:617731.0, GALLOWAY-MOWAT SYNDROME 5, OMIM:617731 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TPRKB | Achchuthan Shanmugasundram reviewed gene: TPRKB: Rating: RED; Mode of pathogenicity: Other; Publications: 28805828; Phenotypes: GALLOWAY-MOWAT SYNDROME 5, OMIM:617731; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TPRKB | Achchuthan Shanmugasundram Mode of pathogenicity for gene TPRKB was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.152 | TPRKB | Rebecca Foulger reviewed gene: TPRKB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.151 | TPRKB |
Rebecca Foulger gene: TPRKB was added gene: TPRKB was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: TPRKB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TPRKB were set to 28805828 Phenotypes for gene: TPRKB were set to GALLOWAY-MOWAT SYNDROME 5, 617731 Mode of pathogenicity for gene: TPRKB was set to Other - please provide details in the comments |
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