Activity
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| DDG2P v6.287 | PIGU | Achchuthan Shanmugasundram Mode of pathogenicity for gene: PIGU was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | PIGU | Achchuthan Shanmugasundram edited their review of gene: PIGU: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PIGU-related intellectual disability, central nervous system anomalies and scoliosis are strong, biallelic_autosomal and undetermined (PMID:31353022). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02761.; Changed phenotypes to: OMIM:618590.0, Intellectual Disability, Central Nervous System anomalies and Scoliosis, PIGU-related intellectual disability, central nervous system anomalies and scoliosis, MONDO:0032824 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PIGU | Achchuthan Shanmugasundram reviewed gene: PIGU: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31353022; Phenotypes: Intellectual Disability, Central Nervous System anomalies and Scoliosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PIGU |
Achchuthan Shanmugasundram Source Expert Review Green was added to PIGU. Mode of inheritance for gene PIGU was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal Mode of pathogenicity for gene PIGU was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v1.130 | PIGU | Rebecca Foulger reviewed gene: PIGU: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.129 | PIGU |
Rebecca Foulger gene: PIGU was added gene: PIGU was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PIGU was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PIGU were set to 31353022 Phenotypes for gene: PIGU were set to Intellectual Disability, Central Nervous System anomalies and Scoliosis Mode of pathogenicity for gene: PIGU was set to Other - please provide details in the comments |
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