There is one large family with a specific missense mutation (that is otherwise very rare in gnomAD) with a LOD score 2.41 and for which there is extensive functional studies with a Gorlin-like phenotype. The other report is a frameshift variant in a Japanese individual. The Ptch2 mouse knockout model showed related but milder phenotype with no tumors. The evidence that variants in PTCH2 cause a Gorlin-like phenotype (odontogenic cysts, etc) with milder phenotype and lower penetrance than the PTCH1-associated genotype is limited.
The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).
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