As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green
Created: 29 Jul 2019, 2:14 p.m. | Last Modified: 29 Jul 2019, 2:14 p.m.
Panel Version: 1.20
Comment when marking as ready: Green reviews. Current diagnostic test.
Created: 30 May 2017, 2:51 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Variants in this GENE are reported as part of current diagnostic practice
Phenotype sourced from OMIM. This gene is on the UKGTN Holoprosencephaly 6 Gene Panel and Nonsyndromic Holoprosencephaly 6 Gene Panel.
Created: 8 Jan 2016, 1:37 p.m.
Source NHS GMS was added to PTCH1.
Promoted to version one after review within the genomics England curation team.
Phenotypes for PTCH1 were set to Holoprosencephaly-7; Holoprosencephaly; Holoprosencephaly 7, 610828
This gene has been classified as Green List (High Evidence).
PTCH1 was added to Holoprosencephalypanel. Source: Illumina TruGenome Clinical Sequencing Services
PTCH1 was added to Holoprosencephalypanel. Source: Radboud University Medical Center, Nijmegen Model of inheritance for gene PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
PTCH1 was added to Holoprosencephalypanel. Sources: UKGTN,Other
PTCH1 was created by ellenmcdonagh