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| DDG2P v3.12 | PTCH1 | Achchuthan Shanmugasundram reviewed gene: PTCH1: Rating: GREEN; Mode of pathogenicity: ; Publications: 8658145, 11941477, 8681379, 17001668, 22572734, 12900905; Phenotypes: BASAL CELL NEVUS SYNDROME, OMIM:109400, HOLOPROSENCEPHALY-7, OMIM:610828; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PTCH1 | Achchuthan Shanmugasundram Publications for gene: PTCH1 were updated from 12900905; 8681379; 22572734; 8658145 to 8658145; 11941477; 8681379; 17001668; 22572734; 12900905 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PTCH1 | Rebecca Foulger reviewed gene: PTCH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PTCH1 |
Rebecca Foulger Added phenotypes BASAL CELL NEVUS SYNDROME 109400 for gene: PTCH1 Publications for gene PTCH1 were changed from 11941477; 17001668 to 12900905; 8681379; 22572734; 8658145 |
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| DDG2P v0.1 | PTCH1 |
Rebecca Foulger gene: PTCH1 was added gene: PTCH1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PTCH1 were set to 11941477; 17001668 Phenotypes for gene: PTCH1 were set to HOLOPROSENCEPHALY-7 610828 |
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