Differences of Sex Development
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
1 review
Chirag Patel (Genetic Health Queensland)
ESHG 2023:
9 individuals with BEEC (WES/Sanger) with 9 x rare HTZ variants in PTCH1 (2 de novo, 7 inherited unaffected parent). No clinical features of Gorlin syndrome and variants not seen in Gorlin syndrome.
Zebrafish models:
a) knock out and knock in (1 missense variant) models showed no phenotype
b) co-injection of WT and missense variant led to altered cloaca on D5.
Proposed mechanism is dominant negative effect.
Sources: OtherCreated: 25 Jul 2023, 1:57 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Bladder exstrophy and epispadias complex (BEEC)
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Other
- Phenotypes
-
- Bladder exstrophy and epispadias complex (BEEC)
- OMIM
- 601309
- Clinvar variants
- Variants in PTCH1
- Penetrance
- None
- 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
25 Jul 2023, Gel status: 2
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ptch1 has been classified as Amber List (Moderate Evidence).
25 Jul 2023, Gel status: 2
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ptch1 has been classified as Amber List (Moderate Evidence).
25 Jul 2023, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Chirag Patel (Genetic Health Queensland)gene: PTCH1 was added gene: PTCH1 was added to Differences of Sex Development. Sources: Other Mode of inheritance for gene: PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PTCH1 were set to Bladder exstrophy and epispadias complex (BEEC) Review for gene: PTCH1 was set to AMBER