Cataracts

Gene: PTCH1

Red List (low evidence)

PTCH1 (patched 1)
EnsemblGeneIds (GRCh38): ENSG00000185920
EnsemblGeneIds (GRCh37): ENSG00000185920
OMIM: 601309, Gene2Phenotype
PTCH1 is in 19 panels

2 reviews

Sarah Waller (Manchester Centre for Genomic Medicine)

Red List (low evidence)

Publications

  • Chassaing et al (2016) Genome Res. 26: 474-485

Ellen McDonagh (Genomics England Curator)

I don't know

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

History Filter Activity

2 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

2 Jun 2016, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for PTCH1 were set to BASAL CELL NEVUS SYNDROME

2 Jun 2016, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for PTCH1 were set to Chassaing et al (2016) Genome Res. 26: 474-485

2 Jun 2016, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for PTCH1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

PTCH1 was added to Cataractspanel. Sources: UKGTN