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| DDG2P v6.253 | MPZ | Achchuthan Shanmugasundram Mode of pathogenicity for gene: MPZ was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | MPZ | Achchuthan Shanmugasundram edited their review of gene: MPZ: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for MPZ-related neuropathy, congenital hypomyelinating are definitive, monoallelic_autosomal and undetermined (PMIDs: 12953275, 15184631, 26310628, 8816708). The cross-cutting modifier is potential secondary finding. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02972.; Changed publications to: 26310628, 15184631, 8816708, 12953275; Changed phenotypes to: OMIM:618184.0, MONDO:0020765, NEUROPATHY, CONGENITAL HYPOMYELINATING, 2, OMIM:618184, MPZ-related neuropathy, congenital hypomyelinating | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MPZ | Achchuthan Shanmugasundram reviewed gene: MPZ: Rating: GREEN; Mode of pathogenicity: Other; Publications: 15184631, 8816708, 12953275, 26310628; Phenotypes: NEUROPATHY, CONGENITAL HYPOMYELINATING, 2, OMIM:618184; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | MPZ |
Achchuthan Shanmugasundram gene: MPZ was added gene: MPZ was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MPZ was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MPZ were set to 15184631; 8816708; 12953275; 26310628 Phenotypes for gene: MPZ were set to NEUROPATHY, CONGENITAL HYPOMYELINATING, 2, OMIM:618184 Mode of pathogenicity for gene: MPZ was set to Other |
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