Hydrops fetalis
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
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- CHONDRODYSPLASIA, BLOMSTRAND TYPE
- BOCD
- OMIM
- 168468
- Clinvar variants
- Variants in PTH1R
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Calcium and Phosphate disorders
- Metaphyseal dysplasias
- Prepair 1000+
- BabyScreen+ newborn screening
- Osteopetrosis
- Hydrops fetalis
- Skeletal Dysplasia_Fetal
- Macrocephaly_Megalencephaly
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- Renal Tubulopathies and related disorders
- Hypercalcaemia
History Filter Activity
30 Dec 2019, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pth1r has been classified as Green List (High Evidence).
30 Dec 2019, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pth1r has been classified as Green List (High Evidence).
30 Dec 2019, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
George McGillivray (Victorian Clinical Genetics Services)gene: PTH1R was added gene: PTH1R was added to Hydrops fetalis_VCGS. Sources: Expert list Mode of inheritance for gene: PTH1R was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PTH1R were set to 3975110; 9268097; 8723092 Phenotypes for gene: PTH1R were set to CHONDRODYSPLASIA, BLOMSTRAND TYPE; BOCD Review for gene: PTH1R was set to GREEN