Activity
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6 actions
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| DDG2P v6.292 | PMPCB | Achchuthan Shanmugasundram Mode of pathogenicity for gene: PMPCB was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | PMPCB | Achchuthan Shanmugasundram edited their review of gene: PMPCB: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PMPCB-related neurodegeneration in early childhood are strong, biallelic_autosomal and undetermined (PMID:29576218). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02600.; Changed phenotypes to: OMIM:617954.0, Neurodegeneration in Early Childhood, PMPCB-related neurodegeneration in early childhood, MONDO:0054785 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PMPCB | Achchuthan Shanmugasundram reviewed gene: PMPCB: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29576218; Phenotypes: Neurodegeneration in Early Childhood; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PMPCB |
Achchuthan Shanmugasundram Source Expert Review Green was added to PMPCB. Mode of pathogenicity for gene PMPCB 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 v1.38 | PMPCB | Rebecca Foulger reviewed gene: PMPCB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.37 | PMPCB |
Rebecca Foulger gene: PMPCB was added gene: PMPCB was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: PMPCB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PMPCB were set to 29576218 Phenotypes for gene: PMPCB were set to Neurodegeneration in Early Childhood Mode of pathogenicity for gene: PMPCB was set to Other - please provide details in the comments |
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