BabyScreen+ newborn screening
Gene: PTH1R

PTH1R (parathyroid hormone 1 receptor)
EnsemblGeneIds (GRCh38): ENSG00000160801
EnsemblGeneIds (GRCh37): ENSG00000160801
OMIM: 168468, Gene2Phenotype
PTH1R is in 15 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Variants in this gene are associated with a range of skeletal disorders.

Wide variability in severity, with BOCD manifesting antenatally.

No specific treatment.
Created: 16 Dec 2022, 12:23 a.m. | Last Modified: 24 Mar 2023, 3:35 a.m.

Panel Version: 0.2081

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Failure of tooth eruption, primary MIM#125350; Eiken syndrome MIM#600002; Metaphyseal chondrodysplasia, Murk Jansen type MIM#156400; Chondrodysplasia, Blomstrand type MIM#215045

Created: 16 Dec 2022, 12:23 a.m.
Last Modified: 24 Mar 2023, 3:35 a.m.
Panel version: 0.1491

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Red
BabySeq Category A gene

Phenotypes

Failure of tooth eruption, primary MIM#125350
Eiken syndrome MIM#600002
Metaphyseal chondrodysplasia, Murk Jansen type MIM#156400
Chondrodysplasia, Blomstrand type MIM#215045

OMIM

168468

Clinvar variants

Variants in PTH1R

Penetrance

None

Panels with this gene