Genodermatoses with malignancies
Gene: PTCH1EnsemblGeneIds (GRCh38): ENSG00000185920
EnsemblGeneIds (GRCh37): ENSG00000185920
OMIM: 601309, Gene2Phenotype
PTCH1 is in 23 panels
1 review
Ajith Kumar (Great Ormond Street Hospital)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Eligibility statement prior genetic testing
- Expert
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Basal cell nevus syndrome 1, OMIM:109400
- Basal cell carcinoma, somatic, OMIM:605462
- Gorlin syndrome
- OMIM
- 601309
- Clinvar variants
- Variants in PTCH1
- Penetrance
- Complete
- Panels with this gene
-
- Holoprosencephaly - NOT chromosomal
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Multiple monogenic benign skin tumours
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Early onset or syndromic epilepsy
- Clefting
- Structural eye disease
- Familial Hirschsprung Disease
- Genodermatoses with malignancies
- Hydrocephalus
- Childhood solid tumours
- Adult solid tumours for rare disease
- Familial Neural Tube Defects
- Nevoid Basal Cell Carcinoma Syndrome or Gorlin syndrome
- Intellectual disability
- Embryonal tumour of possible germline origin
- Adult solid tumours cancer susceptibility
- Mosaic skin disorders - deep sequencing
- DDG2P
- Pituitary hormone deficiency
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
- Bilateral congenital or childhood onset cataracts
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)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
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen Thomas (Genomics England Curator)Mode of inheritance for PTCH1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added New Source
Ellen McDonagh (Genomics England Curator)PTCH1 was added to Genodermatoses with malignanciespanel. Source: Eligibility statement prior genetic testing
Added New Source
Ellen McDonagh (Genomics England Curator)PTCH1 was added to Genodermatoses with malignanciespanel. Source: Expert
Added New Source
Ellen McDonagh (Genomics England Curator)PTCH1 was added to Genodermatoses with malignanciespanel. Source: UKGTN
Added New Source
Ellen McDonagh (Genomics England Curator)PTCH1 was added to Genodermatoses with malignanciespanel. Source: Illumina TruGenome Clinical Sequencing Services
Added New Source
Ellen McDonagh (Genomics England Curator)PTCH1 was added to Genodermatoses with malignanciespanel. Source: Radboud University Medical Center, Nijmegen
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)PTCH1 was added to Genodermatoses with malignanciespanel. Source: Eligibility statement prior genetic testing
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)PTCH1 was added to Genodermatoses with malignanciespanel. Source: UKGTN
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)PTCH1 was added to Genodermatoses with malignanciespanel. Source: Illumina TruGenome Clinical Sequencing Services
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)PTCH1 was added to Genodermatoses with malignanciespanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)PTCH1 was added to Genodermatoses with malignanciespanel. Sources: Eligibility statement prior genetic testing
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene PTCH1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)PTCH1 was added to Genodermatoses with malignanciespanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene PTCH1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)PTCH1 was added to Genodermatoses with malignanciespanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN
Added New Source
Ellen McDonagh (Genomics England Curator)PTCH1 was added to Genodermatoses with malignanciespanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN