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
BASAL CELL NEVUS SYNDROME
This gene has been classified as Red List (Low Evidence).
Phenotypes for PTCH1 were set to BASAL CELL NEVUS SYNDROME
Publications for PTCH1 were set to Chassaing et al (2016) Genome Res. 26: 474-485
Mode of inheritance for PTCH1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
PTCH1 was added to Cataractspanel. Sources: UKGTN