Structural eye disease
Gene: PTCH1EnsemblGeneIds (GRCh38): ENSG00000185920
EnsemblGeneIds (GRCh37): ENSG00000185920
OMIM: 601309, Gene2Phenotype
PTCH1 is in 22 panels
2 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
FC - PMID: 16024850 reported a de novo mutation in a patient with Gorlin syndrome and eye anomalies. We also have an unpublished case with a similar phenotype, with a de novo splice site mutation. Incomplete penetrance for the cases reported by Chassaing et al. 2016, but zebrafish models supported its involvement in microphthalmia (PMID: 28496998)Created: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Holoprosencephaly 7 (can include microphthalmia); 610828
Publications
Ivone Leong (Genomics England Curator)
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). FC - PMID: 16024850 reported a de novo mutation in a patient with Gorlin syndrome and eye anomalies. We also have an unpublished case with a similar phenotype, with a de novo splice site mutation. Incomplete penetrance for the cases reported by Chassaing et al. 2016, but zebrafish models supported its involvement in microphthalmia (PMID: 28496998)Created: 17 Apr 2019, 3:31 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Holoprosencephaly 7 (can include microphthalmia); 610828
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
- NHS GMS
- Phenotypes
-
- Holoprosencephaly 7 (can include microphthalmia), 610828
- Corneal opacification and other ocular anomalies, 269400
- OMIM
- 601309
- Clinvar variants
- Variants in PTCH1
- Penetrance
- None
- 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
Ivone Leong (Genomics England Curator)Publications for gene: PTCH1 were set to 17001668; 16024850; 28496998
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: PTCH1 were changed from Holoprosencephaly 7 (can include microphthalmia), 610828 to Holoprosencephaly 7 (can include microphthalmia), 610828; Corneal opacification and other ocular anomalies, 269400
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: PTCH1 were set to 17001668; 16024850
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: PTCH1 was added gene: PTCH1 was added to Structural eye disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PTCH1 were set to 17001668; 16024850 Phenotypes for gene: PTCH1 were set to Holoprosencephaly 7 (can include microphthalmia), 610828