Renal Tubulopathies and related disorders

Gene: PTH1R

Green List (high evidence)

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)

Green List (high evidence)

The Murk Jansen type of metaphyseal chondrodysplasia is characterized by severe short stature, short bowed limbs, clinodactyly, prominent upper face, and small mandible. Hypercalcaemia and hypophosphataemia occur despite the lack of parathyroid abnormalities.

5 activating mutations reported as causative of this phenotype. Note bi-allelic variants in this gene cause more severe skeletal phenotypes.
Created: 6 Apr 2021, 2:21 a.m. | Last Modified: 6 Apr 2021, 2:21 a.m.
Panel Version: 0.32

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Metaphyseal chondrodysplasia, Murk Jansen type, MIM# 156400; MONDO:0007982

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CalcPhos v38.1.0
  • Expert Review Green
  • Expert Review Green
  • KidGen_CalcPhos v38.1.0
  • Victorian Clinical Genetics Services
Phenotypes
  • Metaphyseal chondrodysplasia, Murk Jansen type MIM#156400
  • Failure of tooth eruption, primary MIM#125350
  • Eiken syndrome MIM#600002
  • Chondrodysplasia, Blomstrand type MIM#215045
OMIM
168468
Clinvar variants
Variants in PTH1R
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Dec 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PTH1R was added gene: PTH1R was added to Renal Tubulopathies and related disorders. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green Mode of inheritance for gene: PTH1R was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: PTH1R were set to 7701349; 17164305; 8855805; 15525660; 19061984 Phenotypes for gene: PTH1R were set to Metaphyseal chondrodysplasia, Murk Jansen type MIM#156400; Failure of tooth eruption, primary MIM#125350; Eiken syndrome MIM#600002; Chondrodysplasia, Blomstrand type MIM#215045