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| Mendeliome v1.4876 | PTCHD3 | Chirag Patel Marked gene: PTCHD3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4876 | PTCHD3 | Chirag Patel Gene: ptchd3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4876 | PTCHD3 | Chirag Patel Phenotypes for gene: PTCHD3 were changed from Syndromic disease, MONDO:0002254 to Nevoid basal cell carcinoma syndrome, MONDO:0007187 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4875 | PTCHD3 |
Chirag Patel gene: PTCHD3 was added gene: PTCHD3 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: PTCHD3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PTCHD3 were set to 41848310 Phenotypes for gene: PTCHD3 were set to Syndromic disease, MONDO:0002254 Review for gene: PTCHD3 was set to RED Added comment: 2 individuals from 1 unrelated family (father-daughter) with a monoallelic variant in PTCHD3 presenting with Basal Cell Nevus Syndrome (BCNS). Clinical features include multiple odontogenic keratocysts, facial pigmented nevi, hypertelorism, and frontal-parietal bone protrusion. The authors propose the variant activates the Hedgehog pathway, supported by molecular docking simulations and increased expression of matrix metalloproteinases in patient-derived fibroblasts. Sources: Literature |
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