Research panel - Severe Paediatric Disorders
Gene: PTH1R

PTH1R (parathyroid hormone 1 receptor)
EnsemblGeneIds (GRCh38): ENSG00000160801
EnsemblGeneIds (GRCh37): ENSG00000160801
OMIM: 168468, Gene2Phenotype
PTH1R is in 7 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: PTH1R; Recommended initial gene rating: Green List (high evidence); Phenotypes: Chondrodysplasia, Blomstrand type, 215045 (3) | Eiken syndrome, 600002 (3) | Failure of tooth eruption, primary, 125350 (3) | Metaphyseal chondrodysplasia, Murk Jansen type, 156400 (3); Mode of inheritance: Autosomal recessive | Autosomal recessive | Autosomal dominant | Autosomal dominant
Created: 20 Feb 2020, 5:24 p.m. | Last Modified: 20 Feb 2020, 5:24 p.m.

Panel Version: 0.12

Created: 20 Feb 2020, 5:24 p.m.
Last Modified: 20 Feb 2020, 5:24 p.m.
Panel version: 0.12

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Next Generation Children Project
Expert Review Green
Expert list

Phenotypes

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

OMIM

168468

Clinvar variants

Variants in PTH1R

Penetrance

None

Publications

30847515

Panels with this gene