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| DDG2P v3.12 | CC2D2A | Achchuthan Shanmugasundram reviewed gene: CC2D2A: Rating: GREEN; Mode of pathogenicity: ; Publications: 18513680, 18950740, 18387594, 23351400, 20671153, 19777577, 2929661, 19574260, 8862632, 22246503; Phenotypes: JOUBERT SYNDROME 9, OMIM:612285; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | CC2D2A | Achchuthan Shanmugasundram Publications for gene: CC2D2A were updated from 18950740; 18387594; 22246503 to 18513680; 22246503; 18387594; 23351400; 20671153; 19777577; 2929661; 19574260; 8862632; 18950740 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CC2D2A | Rebecca Foulger reviewed gene: CC2D2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | CC2D2A |
Rebecca Foulger Added phenotypes JOUBERT SYNDROME 9 612285 for gene: CC2D2A Publications for gene CC2D2A were changed from 2929661; 19574260; 8862632 to 18950740; 18387594; 22246503 |
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| DDG2P v0.1 | CC2D2A |
Rebecca Foulger Added phenotypes COACH SYNDROME 216360 for gene: CC2D2A Publications for gene CC2D2A were changed from 18513680; 20671153 to 2929661; 19574260; 8862632 |
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| DDG2P v0.1 | CC2D2A |
Rebecca Foulger gene: CC2D2A was added gene: CC2D2A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CC2D2A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CC2D2A were set to 18513680; 20671153 Phenotypes for gene: CC2D2A were set to MECKEL SYNDROME, TYPE 6 612284 |
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