Activity
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| DDG2P v6.92 | CDC40 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: CDC40 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | CDC40 | Achchuthan Shanmugasundram edited their review of gene: CDC40: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CDC40-related neurodegenerative pontocerebellar hypoplasia with microcephaly are limited, biallelic_autosomal and undetermined (PMID:33220177). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03070.; Changed phenotypes to: CDC40-related Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly, CDC40-related neurodegenerative pontocerebellar hypoplasia with microcephaly, OMIM:619302.0, MONDO:0030259 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CDC40 | Achchuthan Shanmugasundram reviewed gene: CDC40: Rating: RED; Mode of pathogenicity: Other; Publications: 33220177; Phenotypes: CDC40-related Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CCDC40 | Achchuthan Shanmugasundram reviewed gene: CCDC40: Rating: GREEN; Mode of pathogenicity: ; Publications: 21131974; Phenotypes: CILIARY DYSKINESIA, PRIMARY, 15, OMIM:613808; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | CDC40 |
Achchuthan Shanmugasundram gene: CDC40 was added gene: CDC40 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: CDC40 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CDC40 were set to 33220177 Phenotypes for gene: CDC40 were set to CDC40-related Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly Mode of pathogenicity for gene: CDC40 was set to Other |
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| DDG2P v0.2 | CCDC40 | Rebecca Foulger reviewed gene: CCDC40: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | CCDC40 |
Rebecca Foulger gene: CCDC40 was added gene: CCDC40 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CCDC40 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CCDC40 were set to 21131974 Phenotypes for gene: CCDC40 were set to CILIARY DYSKINESIA, PRIMARY, 15 613808 |
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