Familial Tumours Syndromes of the central & peripheral Nervous system
Gene: PTCH1
PTCH1 (patched 1)
EnsemblGeneIds (GRCh38): ENSG00000185920
EnsemblGeneIds (GRCh37): ENSG00000185920
OMIM: 601309, Gene2Phenotype
PTCH1 is in 23 panels
EnsemblGeneIds (GRCh38): ENSG00000185920
EnsemblGeneIds (GRCh37): ENSG00000185920
OMIM: 601309, Gene2Phenotype
PTCH1 is in 23 panels
1 review
Ellen Thomas (Genomics England Curator)
Comment on list classification: Risk of medulloblastoma in children; may occur before other features have become apparent.Created: 27 May 2016, 7:55 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Phenotypes
-
- Brain, CNS, and PNS Cancer
- OMIM
- 601309
- Clinvar variants
- Variants in PTCH1
- Penetrance
- Complete
- Panels with this gene
-
- Bilateral congenital or childhood onset cataracts
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Intellectual disability
- Early onset or syndromic epilepsy
- DDG2P
- 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
- Structural eye disease
- Nevoid Basal Cell Carcinoma Syndrome or Gorlin syndrome
- Embryonal tumour of possible germline origin
- Adult solid tumours cancer susceptibility
- Childhood solid tumours
- Clefting
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
- Multiple monogenic benign skin tumours
- Holoprosencephaly
History Filter Activity
27 May 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
27 May 2016, Gel status: 4
Set Mode of Inheritance
Ellen Thomas (Genomics England Curator)Mode of inheritance for PTCH1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
27 May 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
23 May 2016, Gel status: 2
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
27 Aug 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)PTCH1 was added to Familial Tumours Syndromes of the central & peripheral Nervous systempanel. Source: Emory Genetics Laboratory
22 Jul 2015, Gel status: 1
Added New Source
Eik Haraldsdottir (Genomics England)PTCH1 was added to Familial Tumours Syndromes of the central & peripheral Nervous systempanel. Sources: Emory Genetics Laboratory