Holoprosencephaly

Gene: PTCH1

Green List (high evidence)

PTCH1 (patched 1)
EnsemblGeneIds (GRCh38): ENSG00000185920
EnsemblGeneIds (GRCh37): ENSG00000185920
OMIM: 601309, Gene2Phenotype
PTCH1 is in 20 panels

4 reviews

Louise Daugherty (Genomics England Curator)

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

Helen Brittain (Genomics England Curator)

Comment when marking as ready: Green reviews. Current diagnostic test.
Created: 30 May 2017, 2:51 p.m.

Lara Menzies (Great Ormond Street Hospital )

Green List (high evidence)

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

Ellen McDonagh (Genomics England Curator)

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.

History Filter Activity

29 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to PTCH1.

31 May 2017, Gel status: 4

panel promoted to version 1

Helen Brittain (Genomics England Curator)

Promoted to version one after review within the genomics England curation team.

31 May 2017, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for PTCH1 were set to Holoprosencephaly-7; Holoprosencephaly; Holoprosencephaly 7, 610828

30 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 Dec 2016, Gel status: 3

Added New Source

Olivia Niblock (Genomics England Curator)

PTCH1 was added to Holoprosencephalypanel. Source: Illumina TruGenome Clinical Sequencing Services

9 Dec 2016, Gel status: 2

Set Mode of Inheritance, Added New Source

Olivia Niblock (Genomics England Curator)

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

8 Jan 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PTCH1 was added to Holoprosencephalypanel. Sources: UKGTN,Other

8 Jan 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

PTCH1 was created by ellenmcdonagh