Embryonal tumour of possible germline origin
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
Achchuthan Shanmugasundram (Genomics England Curator)
PTCH1 has been added to the panel for the clinical indication 'R456 Embryonal tumour of possible germline origin' with a green rating as agreed with the NHS Genomic Medicine Service.Created: 26 Jan 2026, 6:10 p.m. | Last Modified: 26 Jan 2026, 6:10 p.m.
Panel Version: 0.7
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #109400) and the OMIM record was last accessed on 30 December 2025.Created: 30 Dec 2025, 11:14 a.m. | Last Modified: 30 Dec 2025, 11:14 a.m.
Panel Version: 0.2
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Basal cell nevus syndrome 1, OMIM:109400; basal cell nevus syndrome 1, MONDO:0958174
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Basal cell nevus syndrome 1, OMIM:109400
- basal cell nevus syndrome 1, MONDO:0958174
- OMIM
- 601309
- Clinvar variants
- Variants in PTCH1
- Penetrance
- None
- Panels with this gene
-
- Clefting
- Holoprosencephaly - NOT chromosomal
- Intellectual disability
- Multiple monogenic benign skin tumours
- Embryonal tumour of possible germline origin
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Mosaic skin disorders - deep sequencing
- Familial Hirschsprung Disease
- Genodermatoses with malignancies
- Fetal anomalies
- Structural eye disease
- Hydrocephalus
- Childhood solid tumours
- Adult solid tumours for rare disease
- Familial Neural Tube Defects
- Nevoid Basal Cell Carcinoma Syndrome or Gorlin syndrome
- Adult solid tumours cancer susceptibility
- Pituitary hormone deficiency
- DDG2P
- Bilateral congenital or childhood onset cataracts
- Early onset or syndromic epilepsy
- Childhood solid tumours cancer susceptibility
History Filter Activity
30 Dec 2025, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)gene: PTCH1 was added gene: PTCH1 was added to Embryonal tumour of possible germline origin. Sources: NHS GMS,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 Basal cell nevus syndrome 1, OMIM:109400; basal cell nevus syndrome 1, MONDO:0958174