Pituitary hormone deficiency
Gene: PTCH1
PTCH1 (patched 1)
EnsemblGeneIds (GRCh38): ENSG00000185920
EnsemblGeneIds (GRCh37): ENSG00000185920
OMIM: 601309, Gene2Phenotype
PTCH1 is in 20 panels
EnsemblGeneIds (GRCh38): ENSG00000185920
EnsemblGeneIds (GRCh37): ENSG00000185920
OMIM: 601309, Gene2Phenotype
PTCH1 is in 20 panels
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Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Genomics England PanelApp
- Phenotypes
-
- Holoprosencephaly 7 (610828)
- OMIM
- 601309
- Clinvar variants
- Variants in PTCH1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Overgrowth
- Clefting disorders
- BabyScreen+ newborn screening
- Pituitary hormone deficiency
- Intellectual disability syndromic and non-syndromic
- Transplant Co-Morbidity Superpanel
- Genetic Epilepsy
- Differences of Sex Development
- Cancer Predisposition_Paediatric
- Hydrocephalus_Ventriculomegaly
- Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
- Medulloblastoma
- Macrocephaly_Megalencephaly
- Facial papules
- Holoprosencephaly and septo-optic dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- Callosome
- Basal Cell Cancer
History Filter Activity
13 Jul 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Seb Lunke (Victorian Clinical Genetics Services)gene: PTCH1 was added gene: PTCH1 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Red Mode of inheritance for gene: PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PTCH1 were set to 11941477 Phenotypes for gene: PTCH1 were set to Holoprosencephaly 7 (610828)