Holoprosencephaly - NOT chromosomal
Gene: PTCH1EnsemblGeneIds (GRCh38): ENSG00000185920
EnsemblGeneIds (GRCh37): ENSG00000185920
OMIM: 601309, Gene2Phenotype
PTCH1 is in 22 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 GreenCreated: 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 )
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.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- UKGTN
- Other
- Phenotypes
-
- Holoprosencephaly 7, OMIM:610828
- OMIM
- 601309
- Clinvar variants
- Variants in PTCH1
- Penetrance
- Complete
- Panels with this gene
-
- Multiple monogenic benign skin tumours
- Familial Tumours Syndromes of the central & peripheral Nervous system
- DDG2P
- Fetal anomalies
- Clefting
- Familial Hirschsprung Disease
- Genodermatoses with malignancies
- Bilateral congenital or childhood onset cataracts
- Adult solid tumours for rare disease
- Familial Neural Tube Defects
- Nevoid Basal Cell Carcinoma Syndrome or Gorlin syndrome
- Hydrocephalus
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Structural eye disease
- Mosaic skin disorders - deep sequencing
- Early onset or syndromic epilepsy
- Pituitary hormone deficiency
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Holoprosencephaly - NOT chromosomal
- Childhood solid tumours cancer susceptibility
- Intellectual disability
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: PTCH1 were changed from Holoprosencephaly-7; Holoprosencephaly; Holoprosencephaly 7, 610828 to Holoprosencephaly 7, OMIM:610828
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to PTCH1.
panel promoted to version 1
Helen Brittain (Genomics England Curator)Promoted to version one after review within the genomics England curation team.
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for PTCH1 were set to Holoprosencephaly-7; Holoprosencephaly; Holoprosencephaly 7, 610828
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Olivia Niblock (Genomics England Curator)PTCH1 was added to Holoprosencephalypanel. Source: Illumina TruGenome Clinical Sequencing Services
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
Added New Source
Ellen McDonagh (Genomics England Curator)PTCH1 was added to Holoprosencephalypanel. Sources: UKGTN,Other
Created
Ellen McDonagh (Genomics England Curator)PTCH1 was created by ellenmcdonagh