Facial papules
Gene: PTCH1EnsemblGeneIds (GRCh38): ENSG00000185920
EnsemblGeneIds (GRCh37): ENSG00000185920
OMIM: 601309, Gene2Phenotype
PTCH1 is in 20 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
BCCs can present on the face and coarse facial features and facial milia are also present in ~60% of cases with a PTCH1 variant.
Sources: Expert listCreated: 19 Jun 2023, 1:41 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
nevoid basal cell carcinoma syndrome MONDO:0007187
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- nevoid basal cell carcinoma syndrome MONDO:0007187
- OMIM
- 601309
- Clinvar variants
- Variants in PTCH1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Overgrowth
- Clefting disorders
- BabyScreen+ newborn screening
- Pituitary hormone deficiency
- Intellectual disability syndromic and non-syndromic
- Transplant Co-Morbidity Superpanel
- Genetic Epilepsy
- Differences of Sex Development
- Cancer Predisposition_Paediatric
- Hydrocephalus_Ventriculomegaly
- Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
- Medulloblastoma
- Macrocephaly_Megalencephaly
- Facial papules
- Holoprosencephaly and septo-optic dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- Callosome
- Basal Cell Cancer
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: ptch1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: ptch1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: PTCH1 was added gene: PTCH1 was added to Facial papules. Sources: Expert list Mode of inheritance for gene: PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PTCH1 were set to 20301330 Phenotypes for gene: PTCH1 were set to nevoid basal cell carcinoma syndrome MONDO:0007187 Review for gene: PTCH1 was set to GREEN gene: PTCH1 was marked as current diagnostic