Childhood solid tumours
Gene: PTCH1EnsemblGeneIds (GRCh38): ENSG00000185920
EnsemblGeneIds (GRCh37): ENSG00000185920
OMIM: 601309, Gene2Phenotype
PTCH1 is in 23 panels
3 reviews
Ivone Leong (Genomics England Curator)
As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: the group agreed that there is enough evidence to rate this gene greenCreated: 2 Aug 2019, 11:03 a.m. | Last Modified: 2 Aug 2019, 11:03 a.m.
Panel Version: 1.27
Lara Hawkes (Genomics England)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Gorlin syndrome
Richard Scott (Genomics England Curator)
Comment on list classification: Established association with medulloblastomaCreated: 7 Mar 2016, 11:49 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Expert List
- Expert Review Green
- Phenotypes
-
- Basal cell nevus syndrome 1, OMIM:109400
- Gorlin syndrome
- OMIM
- 601309
- Clinvar variants
- Variants in PTCH1
- Penetrance
- Complete
- Publications
- 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
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: PTCH1 were changed from Basal cell nevus syndrome 1, OMIM:109400; Gorlin syndrome to Basal cell nevus syndrome 1, OMIM:109400; Gorlin syndrome
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: PTCH1 were changed from 109400; Gorlin syndrome to Basal cell nevus syndrome 1, OMIM:109400; Gorlin syndrome
Added New Source, Set mode of inheritance, Set Phenotypes, Set publications
Ivone Leong (Genomics England Curator)Source NHS GMS was added to PTCH1. Mode of inheritance for gene PTCH1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Gorlin syndrome for gene: PTCH1 Publications for gene PTCH1 were changed from 8326488 to 13851319
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert List was added to PTCH1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Created
Richard Scott (North Thames GMC/UCL)PTCH1 was created by Reviewer_03
Added New Source
Richard Scott (North Thames GMC/UCL)PTCH1 was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: Expert list