Activity
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6 actions
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| DDG2P v6.287 | PIGT | Achchuthan Shanmugasundram Mode of pathogenicity for gene: PIGT was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | PIGT | Achchuthan Shanmugasundram edited their review of gene: PIGT: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PIGT-related multiple congenital anomalies-hypotonia-seizures syndrome are definitive, biallelic_autosomal and undetermined (PMIDs: 23636107, 24906948). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01110.; Changed publications to: 24906948, 23636107; Changed phenotypes to: PIGT-related multiple congenital anomalies-hypotonia-seizures syndrome, MONDO:0014165, OMIM:615398.0, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, OMIM:615398 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PIGT | Achchuthan Shanmugasundram reviewed gene: PIGT: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23636107, 24906948; Phenotypes: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, OMIM:615398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PIGT | Achchuthan Shanmugasundram Mode of pathogenicity for gene PIGT was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PIGT | Rebecca Foulger reviewed gene: PIGT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PIGT |
Rebecca Foulger gene: PIGT was added gene: PIGT was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PIGT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGT were set to 23636107; 24906948 Phenotypes for gene: PIGT were set to MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 615398 Mode of pathogenicity for gene: PIGT was set to Other - please provide details in the comments |
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