Undiagnosed neurocutaneous disorders
Gene: PTCH1EnsemblGeneIds (GRCh38): ENSG00000185920
EnsemblGeneIds (GRCh37): ENSG00000185920
OMIM: 601309, Gene2Phenotype
PTCH1 is in 22 panels
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Basal cell nevus syndrome, 109400
- Basal cell carcinoma, somatic, 605462
- Holoprosencephaly-7, 610828
- Nevoid Basal Cell Carcinoma Syndrome (NBCCS)
- Basal Cell Nevus Syndrome
- Gorlin syndrome
- OMIM
- 601309
- Clinvar variants
- Variants in PTCH1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Multiple monogenic benign skin tumours
- Early onset or syndromic epilepsy
- Familial Tumours Syndromes of the central & peripheral Nervous system
- DDG2P
- Intellectual disability
- Holoprosencephaly - NOT chromosomal
- Familial Hirschsprung Disease
- Genodermatoses with malignancies
- Clefting
- 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
- Fetal anomalies
- Pituitary hormone deficiency
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Childhood solid tumours cancer susceptibility
History Filter Activity
Set publications
Rebecca Foulger (Genomics England curator)Publications for PTCH1 were set to 26564075
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for PTCH1 were set to Basal cell nevus syndrome, 109400; Basal cell carcinoma, somatic, 605462; Holoprosencephaly-7, 610828; Nevoid Basal Cell Carcinoma Syndrome (NBCCS); Basal Cell Nevus Syndrome; Gorlin syndrome
Added New Source
Ellen McDonagh (Genomics England Curator)PTCH1 was added to Undiagnosed neurocutaneous disorderspanel. Source: UKGTN
Set Mode of Inheritance, Added New Source
Ellen McDonagh (Genomics England Curator)PTCH1 was added to Undiagnosed neurocutaneous disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)PTCH1 was added to Undiagnosed neurocutaneous disorderspanel. Sources: Radboud University Medical Center, Nijmegen
Created
Ellen McDonagh (Genomics England Curator)PTCH1 was created by ellenmcdonagh