Tumour predisposition - adult onset
Gene: PTCH1EnsemblGeneIds (GRCh38): ENSG00000185920
EnsemblGeneIds (GRCh37): ENSG00000185920
OMIM: 601309, Gene2Phenotype
PTCH1 is in 23 panels
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Familial Tumours Syndromes of the central & peripheral Nervous system (Version 1.8)
- Adult solid tumours for rare disease (Version 1.21)
- Phenotypes
-
- Brain, CNS, and PNS Cancer
- Gorlin syndrome, BCC
- OMIM
- 601309
- Clinvar variants
- Variants in PTCH1
- Penetrance
- None
- Panels with this gene
-
- Intellectual disability
- Bilateral congenital or childhood onset cataracts
- Familial Tumours Syndromes of the central & peripheral Nervous system
- DDG2P
- Fetal anomalies
- Structural eye disease
- Mosaic skin disorders - deep sequencing
- Familial Hirschsprung Disease
- Genodermatoses with malignancies
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Pituitary hormone deficiency
- Hydrocephalus
- Adult solid tumours for rare disease
- Familial Neural Tube Defects
- Nevoid Basal Cell Carcinoma Syndrome or Gorlin syndrome
- Embryonal tumour of possible germline origin
- Early onset or syndromic epilepsy
- Adult solid tumours cancer susceptibility
- Childhood solid tumours
- Clefting
- Childhood solid tumours cancer susceptibility
- Multiple monogenic benign skin tumours
- Holoprosencephaly
History Filter Activity
Panel promoted to version 1.0
Rebecca Foulger (Genomics England curator)Panel checked against two component panels (Adult solid tumours for rare disease v1.21 and Familial Tumours Syndromes of the central & peripheral Nervous system v1.8) and promoted to Version 1.0.
Set Phenotypes
Rebecca Foulger (Genomics England curator)Added phenotypes Brain, CNS, and PNS Cancer for gene: PTCH1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: PTCH1 was added gene: PTCH1 was added to Tumour predisposition - adult onset. Sources: Adult solid tumours for rare disease (Version 1.21),Familial Tumours Syndromes of the central & peripheral Nervous system (Version 1.8),Expert Review Green Mode of inheritance for gene: PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PTCH1 were set to Gorlin syndrome, BCC