Holoprosencephaly - NOT chromosomal
Gene: PTCH1As 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 GreenCreated: 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
Phenotypes
Holoprosencephaly-7; Holoprosencephaly
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.
Phenotypes for gene: PTCH1 were changed from Holoprosencephaly-7; Holoprosencephaly; Holoprosencephaly 7, 610828 to Holoprosencephaly 7, OMIM:610828
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