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| Basal Cell Cancer v0.6 | PTCH2 | Zornitza Stark Marked gene: PTCH2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Basal Cell Cancer v0.6 | PTCH2 | Zornitza Stark Gene: ptch2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Basal Cell Cancer v0.6 | PTCH2 |
Chirag Patel gene: PTCH2 was added gene: PTCH2 was added to Basal Cell Cancer. Sources: Literature,Expert Review Mode of inheritance for gene: PTCH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PTCH2 were set to PMID: 34170463, 18285427, 23479190, 30820324, 38354379 Phenotypes for gene: PTCH2 were set to Basal cell carcinoma, MONDO:0020804; Nevoid basal cell carcinoma syndrome, MONDO:0007187 Review for gene: PTCH2 was set to RED Added comment: A number of case/family reports have proposed PTCH2 as a putative Gorlin Syndrome (GS) gene, but evidence to support this is lacking. PMID: 34170463 paper found no pathogenic or likely pathogenic PTCH2 variants in cohort of 21 PTCH1/SUFU negative GS families. They assessed evidence from reported cases/families with PTCH2 variants, and determined that none of the previously published PTCH2 variants in GS families/cases could be considered pathogenic or likely pathogenic using current guidelines. There is also a high frequency of Loss-of-function (LoF) variants in the general population, including the presence of homozygous LoF variants without a clinical phenotype. Sources: Literature, Expert Review |
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