Clefting
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
Helen Brittain (Genomics England Curator)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
BASAL CELL NEVUS SYNDROME; BCNS, HOLOPROSENCEPHALY 7; HPE7
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Phenotypes
-
- Holoprosencephaly 7, OMIM:610828
- Basal cell nevus syndrome 1, OMIM:109400
- OMIM
- 601309
- Clinvar variants
- Variants in PTCH1
- Penetrance
- Complete
- 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
22 Aug 2023, Gel status: 3
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: PTCH1 were changed from BASAL CELL NEVUS SYNDROME; BCNS, HOLOPROSENCEPHALY 7; HPE7 to Holoprosencephaly 7, OMIM:610828; Basal cell nevus syndrome 1, OMIM:109400
31 May 2017, Gel status: 4
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
26 May 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)PTCH1 was created by ellenmcdonagh
26 May 2017, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)PTCH1 was added to Cleftingpanel. Sources: Expert Review Green