Activity
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6 actions
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| DDG2P v6.310 | PYCR2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: PYCR2 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | PYCR2 | Achchuthan Shanmugasundram edited their review of gene: PYCR2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PYCR2-related postnatal microcephaly, hypomyelination, and reduced cerebral white-matter volume are strong, biallelic_autosomal and undetermined (PMID:25865492). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01573.; Changed phenotypes to: MONDO:0014632, OMIM:616420.0, PYCR2-related postnatal microcephaly, hypomyelination, and reduced cerebral white-matter volume, POSTNATAL MICROCEPHALY, HYPOMYELINATION, AND REDUCED CEREBRAL WHITE-MATTER VOLUME | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PYCR2 | Achchuthan Shanmugasundram reviewed gene: PYCR2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25865492; Phenotypes: POSTNATAL MICROCEPHALY, HYPOMYELINATION, AND REDUCED CEREBRAL WHITE-MATTER VOLUME; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PYCR2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to PYCR2. Mode of pathogenicity for gene PYCR2 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 v0.2 | PYCR2 | Rebecca Foulger reviewed gene: PYCR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PYCR2 |
Rebecca Foulger gene: PYCR2 was added gene: PYCR2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PYCR2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PYCR2 were set to 25865492 Phenotypes for gene: PYCR2 were set to POSTNATAL MICROCEPHALY, HYPOMYELINATION, AND REDUCED CEREBRAL WHITE-MATTER VOLUME Mode of pathogenicity for gene: PYCR2 was set to Other - please provide details in the comments |
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