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| DDG2P v3.12 | CCDC88C | Achchuthan Shanmugasundram reviewed gene: CCDC88C: Rating: GREEN; Mode of pathogenicity: ; Publications: 23042809; Phenotypes: HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE, OMIM:236600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v3.12 | CCDC8 | Achchuthan Shanmugasundram reviewed gene: CCDC8: Rating: GREEN; Mode of pathogenicity: ; Publications: 21737058; Phenotypes: THREE M SYNDROME 3, OMIM:614205; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | CCDC88C |
Achchuthan Shanmugasundram Source Expert Review Green was added to CCDC88C. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | CCDC88A | Achchuthan Shanmugasundram Mode of inheritance for gene CCDC88A was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | CCDC8 |
Achchuthan Shanmugasundram Source Expert Review Green was added to CCDC8. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v0.2 | CCDC88C | Rebecca Foulger reviewed gene: CCDC88C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CCDC88A | Rebecca Foulger reviewed gene: CCDC88A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CCDC8 | Rebecca Foulger reviewed gene: CCDC8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | CCDC88C |
Rebecca Foulger gene: CCDC88C was added gene: CCDC88C was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CCDC88C was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CCDC88C were set to 23042809 Phenotypes for gene: CCDC88C were set to HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 236600 |
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| 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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| DDG2P v0.1 | CCDC8 |
Rebecca Foulger gene: CCDC8 was added gene: CCDC8 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CCDC8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CCDC8 were set to 21737058 Phenotypes for gene: CCDC8 were set to THREE M SYNDROME 3 614205 |
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