Genodermatoses with malignancies
Gene: PTCH1
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
multiple basal cell carcinomas, macrocephaly, medulloblastoma, dural calcification, odontogenic keratocysts
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: PTCH1 were changed from Basal cell nevus syndrome, 109400; Basal cell carcinoma, somatic, 605462; Holoprosencephaly-7, 610828; Nevoid Basal Cell Carcinoma Syndrome (aka Gorlin syndrome); Basal Cell Nevus Syndrome (aka Gorlin syndrome); Basal cell nevus syndrome; Nevoid Basal Cell Carcinoma Syndrome; (originally on Gorlin syndrome gene panel) to Basal cell nevus syndrome 1, OMIM:109400; Basal cell carcinoma, somatic, OMIM:605462; Gorlin syndrome
This gene has been classified as Green List (High Evidence).
Mode of inheritance for PTCH1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
PTCH1 was added to Genodermatoses with malignanciespanel. Source: Eligibility statement prior genetic testing
PTCH1 was added to Genodermatoses with malignanciespanel. Source: Expert
PTCH1 was added to Genodermatoses with malignanciespanel. Source: UKGTN
PTCH1 was added to Genodermatoses with malignanciespanel. Source: Illumina TruGenome Clinical Sequencing Services
PTCH1 was added to Genodermatoses with malignanciespanel. Source: Radboud University Medical Center, Nijmegen
Model of inheritance for gene PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
PTCH1 was added to Genodermatoses with malignanciespanel. Source: Eligibility statement prior genetic testing
Model of inheritance for gene PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
PTCH1 was added to Genodermatoses with malignanciespanel. Source: UKGTN
Model of inheritance for gene PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
PTCH1 was added to Genodermatoses with malignanciespanel. Source: Illumina TruGenome Clinical Sequencing Services
Model of inheritance for gene PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
PTCH1 was added to Genodermatoses with malignanciespanel. Source: Radboud University Medical Center, Nijmegen
PTCH1 was added to Genodermatoses with malignanciespanel. Sources: Eligibility statement prior genetic testing
Model of inheritance for gene PTCH1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
PTCH1 was added to Genodermatoses with malignanciespanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN
Model of inheritance for gene PTCH1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
PTCH1 was added to Genodermatoses with malignanciespanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN
PTCH1 was added to Genodermatoses with malignanciespanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN