Activity
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4 actions
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| DDG2P v6.291 | PLCH1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: PLCH1 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | PLCH1 | Achchuthan Shanmugasundram edited their review of gene: PLCH1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PLCH1-related holoprosencephaly are limited, biallelic_autosomal and undetermined (PMID:33820834). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03315.; Changed phenotypes to: MONDO:0030886, PLCH1-related holoprosencephaly, HPE-related disorder, OMIM:619895.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PLCH1 | Achchuthan Shanmugasundram reviewed gene: PLCH1: Rating: RED; Mode of pathogenicity: Other; Publications: 33820834; Phenotypes: HPE-related disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PLCH1 |
Achchuthan Shanmugasundram gene: PLCH1 was added gene: PLCH1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: PLCH1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLCH1 were set to 33820834 Phenotypes for gene: PLCH1 were set to HPE-related disorder Mode of pathogenicity for gene: PLCH1 was set to Other |
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