Fetal hydrops

Gene: PTH1R

No list

PTH1R (parathyroid hormone 1 receptor)
EnsemblGeneIds (GRCh38): ENSG00000160801
EnsemblGeneIds (GRCh37): ENSG00000160801
OMIM: 168468, Gene2Phenotype
PTH1R is in 8 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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 list
Created: 30 Dec 2019, 8:49 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
CHONDRODYSPLASIA, BLOMSTRAND TYPE; BOCD

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • CHONDRODYSPLASIA, BLOMSTRAND TYPE
  • BOCD
OMIM
168468
Clinvar variants
Variants in PTH1R
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Dec 2019, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: PTH1R was added gene: PTH1R was added to Fetal hydrops. 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 gene: PTH1R was marked as current diagnostic