Structural eye disease
Gene: PTCH1
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 We also have an unpublished case with a similar phenotype, with a de novo splice site mutation.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
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 We also have an unpublished case with a similar phenotype, with a de novo splice site mutation.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
Publications for gene: PTCH1 were set to 17001668; 16024850; 28496998
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
Publications for gene: PTCH1 were set to 17001668; 16024850
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