Skeletal Dysplasia_Fetal
Gene: PTH1R
PTH1R (parathyroid hormone 1 receptor)
EnsemblGeneIds (GRCh38): ENSG00000160801
EnsemblGeneIds (GRCh37): ENSG00000160801
OMIM: 168468, Gene2Phenotype
PTH1R is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000160801
EnsemblGeneIds (GRCh37): ENSG00000160801
OMIM: 168468, Gene2Phenotype
PTH1R is in 15 panels
1 review
George McGillivray (Victorian Clinical Genetics Services)
PMID 3975110
Original case report "The infant was hydropic, showed macroglossia and had very short limbs with normal sized hands and feet"
PMID 9268097
Sibling fetuses were both hydropic at 26 and 33 weeks' gestation.
PMID 8723092:
Both fetuses hydropic, one grossly so.
Sources: Expert listCreated: 30 Dec 2019, 12:20 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CHONDRODYSPLASIA, BLOMSTRAND TYPE; BOCD
Publications
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
- OMIM
- 168468
- Clinvar variants
- Variants in PTH1R
- Penetrance
- None
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Calcium and Phosphate disorders
- Metaphyseal dysplasias
- Prepair 1000+
- BabyScreen+ newborn screening
- Osteopetrosis
- Hydrops fetalis
- Macrocephaly_Megalencephaly
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Skeletal Dysplasia_Fetal
- Mendeliome
- Renal Tubulopathies and related disorders
- Hypercalcaemia
History Filter Activity
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: PTH1R was added gene: PTH1R was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PTH1R was set to Unknown