Bilateral congenital or childhood onset cataracts
Gene: PTCH1EnsemblGeneIds (GRCh38): ENSG00000185920
EnsemblGeneIds (GRCh37): ENSG00000185920
OMIM: 601309, Gene2Phenotype
PTCH1 is in 22 panels
2 reviews
Sarah Waller (Manchester Centre for Genomic Medicine)
Publications
- Chassaing et al (2016) Genome Res. 26: 474-485
Ellen McDonagh (Genomics England Curator)
Not on the Manchester congenital cataracts gene panel. It is a confirmed DD gene for Basal cell nevus syndrome (includes cataract as a phenotype). Cataracts not included in the basal cell nevus syndrome clinical synopsis on OMIM: http://omim.org/clinicalSynopsis/109400.Created: 29 Apr 2016, 1:46 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
BASAL CELL NEVUS SYNDROME
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- UKGTN
- Phenotypes
-
- Basal cell nevus syndrome 1, OMIM:109400
- OMIM
- 601309
- Clinvar variants
- Variants in PTCH1
- Penetrance
- Complete
- Publications
-
- Chassaing et al (2016) Genome Res. 26: 474-485
- 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 Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: PTCH1 were changed from BASAL CELL NEVUS SYNDROME to Basal cell nevus syndrome 1, OMIM:109400
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for PTCH1 were set to BASAL CELL NEVUS SYNDROME
Set publications
Ellen McDonagh (Genomics England Curator)Publications for PTCH1 were set to Chassaing et al (2016) Genome Res. 26: 474-485
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for PTCH1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
GEL ()PTCH1 was added to Cataractspanel. Sources: UKGTN