Nevoid Basal Cell Carcinoma Syndrome or Gorlin syndrome
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
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #109400) and the OMIM record was last accessed on 29 December 2025.Created: 29 Dec 2025, 11:17 a.m. | Last Modified: 29 Dec 2025, 11:17 a.m.
Panel Version: 1.2
PTCH1 has been added to the panel for R214 Nevoid Basal Cell Carcinoma Syndrome or Gorlin syndrome with a green rating as agreed with the NHS Genomic Medicine Service.Created: 30 Jun 2023, 3:07 p.m. | Last Modified: 30 Jun 2023, 3:07 p.m.
Panel Version: 0.1
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
-
- Multiple monogenic benign skin tumours
- Familial Tumours Syndromes of the central & peripheral Nervous system
- DDG2P
- Clefting
- Familial Hirschsprung Disease
- Genodermatoses with malignancies
- Bilateral congenital or childhood onset cataracts
- Adult solid tumours for rare disease
- Familial Neural Tube Defects
- Nevoid Basal Cell Carcinoma Syndrome or Gorlin syndrome
- Hydrocephalus
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Structural eye disease
- Mosaic skin disorders - deep sequencing
- Early onset or syndromic epilepsy
- Fetal anomalies
- Pituitary hormone deficiency
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Holoprosencephaly - NOT chromosomal
- Childhood solid tumours cancer susceptibility
- Intellectual disability
History Filter Activity
29 Dec 2025, Gel status: 3
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: PTCH1 were changed from to Basal cell nevus syndrome 1, OMIM:109400; basal cell nevus syndrome 1, MONDO:0958174
30 Jun 2023, Gel status: 3
Created, Added New Source, Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)gene: PTCH1 was added gene: PTCH1 was added to Nevoid Basal Cell Carcinoma Syndrome or Gorlin syndrome. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown