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| DDG2P v3.12 | PTCHD1 | Achchuthan Shanmugasundram reviewed gene: PTCHD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20844286; Phenotypes: AUTISM/ID, OMIM:300830; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PTCHD1 | Rebecca Foulger reviewed gene: PTCHD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PTCHD1 |
Rebecca Foulger gene: PTCHD1 was added gene: PTCHD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PTCHD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PTCHD1 were set to 20844286 Phenotypes for gene: PTCHD1 were set to AUTISM/ID 300830 |
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