Holoprosencephaly and septo-optic dysplasia
Gene: PTCH1EnsemblGeneIds (GRCh38): ENSG00000185920
EnsemblGeneIds (GRCh37): ENSG00000185920
OMIM: 601309, Gene2Phenotype
PTCH1 is in 20 panels
3 reviews
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.Created: 25 Jul 2023, 1:57 a.m. | Last Modified: 25 Jul 2023, 1:57 a.m.
Panel Version: 1.1002
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Bladder exstrophy and epispadias complex (BEEC)
Seb Lunke (Victorian Clinical Genetics Services)
Well established gene-disease association. Note variants in this gene also cause basal cell naevus syndrome.Created: 1 Mar 2022, 2:28 a.m. | Last Modified: 1 Mar 2022, 2:28 a.m.
Panel Version: 0.11083
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Holoprosencephaly 7, MIM# 610828
Publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established gene-disease association.
Note variants in this gene also cause basal cell naevus syndrome.Created: 24 Apr 2021, 8:14 a.m. | Last Modified: 24 Apr 2021, 8:14 a.m.
Panel Version: 0.69
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Holoprosencephaly 7, MIM# 610828
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Holoprosencephaly 7, MIM# 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ptch1 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: PTCH1 were changed from to Holoprosencephaly 7, MIM# 610828
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: PTCH1 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: PTCH1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: PTCH1 was added gene: PTCH1 was added to Holoprosencephaly and septo-optic dysplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PTCH1 was set to Unknown