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| DDG2P v4.10 | CCDC88A | Achchuthan Shanmugasundram edited their review of gene: CCDC88A: Added comment: The DDG2P confidence category for the disease CCDC88A-related PEHO-like syndrome with neuronal migration disorder, seizures and microcephaly, OMIM:617507 is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;decreased gene product level (PMID: 37798908;30392057;26917597).; Changed rating: GREEN; Changed publications to: 37798908, 30392057, 26917597; Changed phenotypes to: PEHO-like syndrome, OMIM:617507, CCDC88A-related PEHO-like syndrome with neuronal migration disorder, seizures and microcephaly, OMIM:617507 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.9 | CCDC88A |
Achchuthan Shanmugasundram Source Expert Review Green was added to CCDC88A. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| DDG2P v3.12 | CCDC88A | Achchuthan Shanmugasundram reviewed gene: CCDC88A: Rating: RED; Mode of pathogenicity: ; Publications: 26917597; Phenotypes: PEHO-like syndrome, OMIM:617507; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | CCDC88A | Achchuthan Shanmugasundram Mode of inheritance for gene CCDC88A was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CCDC88A | Rebecca Foulger reviewed gene: CCDC88A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | CCDC88A |
Rebecca Foulger gene: CCDC88A was added gene: CCDC88A was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: CCDC88A was set to Publications for gene: CCDC88A were set to 26917597 Phenotypes for gene: CCDC88A were set to PEHO-like syndrome |
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