Pituitary hormone deficiency
Gene: PTCH1
PTCH1 (patched 1)
EnsemblGeneIds (GRCh38): ENSG00000185920
EnsemblGeneIds (GRCh37): ENSG00000185920
OMIM: 601309, Gene2Phenotype
PTCH1 is in 22 panels
EnsemblGeneIds (GRCh38): ENSG00000185920
EnsemblGeneIds (GRCh37): ENSG00000185920
OMIM: 601309, Gene2Phenotype
PTCH1 is in 22 panels
1 review
Ivone Leong (Genomics England Curator)
Comment on list classification: Demoted from amber to red. PTCH1 is confirmed to be associated with Holoprosencephaly 7 in OMIM and Gene2Phenotype, and it is a green gene in the Holoprosencephaly panel (Version 1.6). However, there is only one reported case of a patient with Holoprosencephaly with a variant in the PTCH1 gene who has panhypopituitarism.Created: 14 Dec 2018, 1:59 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Phenotypes
-
- Holoprosencephaly 7, OMIM:610828
- OMIM
- 601309
- Clinvar variants
- Variants in PTCH1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Multiple monogenic benign skin tumours
- Early onset or syndromic epilepsy
- Familial Tumours Syndromes of the central & peripheral Nervous system
- DDG2P
- Intellectual disability
- Holoprosencephaly - NOT chromosomal
- Familial Hirschsprung Disease
- Genodermatoses with malignancies
- Clefting
- 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
- Fetal anomalies
- Pituitary hormone deficiency
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Childhood solid tumours cancer susceptibility
History Filter Activity
22 Aug 2023, Gel status: 1
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: PTCH1 were changed from Holoprosencephaly 7 (610828) to Holoprosencephaly 7, OMIM:610828
30 Jan 2019, Gel status: 1
Panel promoted to version 1.0
Ivone Leong (Genomics England Curator)Ivone Leong: Comment on list classification
14 Dec 2018, Gel status: 1
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: ptch1 has been classified as Red List (Low Evidence).
14 Dec 2018, Gel status: 2
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: PTCH1 were set to
10 Dec 2018, Gel status: 2
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: PTCH1 was added gene: PTCH1 was added to Pituitary hormone deficiency. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PTCH1 were set to Holoprosencephaly 7 (610828)