This Panel is marked as Retired
Multiple Tumours
Gene: PTCH1
PTCH1 (patched 1)
EnsemblGeneIds (GRCh38): ENSG00000185920
EnsemblGeneIds (GRCh37): ENSG00000185920
OMIM: 601309, Gene2Phenotype
PTCH1 is in 22 panels
EnsemblGeneIds (GRCh38): ENSG00000185920
EnsemblGeneIds (GRCh37): ENSG00000185920
OMIM: 601309, Gene2Phenotype
PTCH1 is in 22 panels
1 review
Ellen McDonagh (Genomics England Curator)
Information from TruSight panel: Pathogenic Mutations are Inactivating.Created: 5 Feb 2016, 11:46 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- TruSight Cancer Panel (Illumina)
- Phenotypes
-
- Nevoid Basal Cell Carcinoma Syndrome
- Gorlin Syndrome
- Basal cell carcinoma
- Medulloblastoma
- Genodermatoses with malignancies
- Paediatric congenital malformation-dysmorphism-tumour syndromes
- 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
- Intellectual disability
- 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
- Bilateral congenital or childhood onset cataracts
- Adult solid tumours cancer susceptibility
- Mosaic skin disorders - deep sequencing
- DDG2P
- Pituitary hormone deficiency
- Early onset or syndromic epilepsy
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
History Filter Activity
9 Mar 2016, Gel status: 4
Set Mode of Inheritance, Added New Source
Ellen McDonagh (Genomics England Curator)PTCH1 was added to Multiple Tumourspanel. Source: Expert Review Green Model of inheritance for gene PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
5 Feb 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)PTCH1 was created by ellenmcdonagh
5 Feb 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)PTCH1 was added to Multiple Tumourspanel. Sources: TruSight Cancer Panel (Illumina)