GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: PTH1R

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

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Metaphyseal dysplasia gp of SD; neonatal osteosclerotic dysplasias gp of SD, disorganized development of skeletal components gp of SD. Gene previously called PTHR1. Several cases reported with overlapping phenotypes.; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

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

OMIM

168468

Clinvar variants

Variants in PTH1R

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

gene: PTH1R was added gene: PTH1R was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: PTH1R was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: PTH1R were set to Failure of tooth eruption, primary 125350; Eiken syndrome 600002; Metaphyseal chondrodysplasia, Murk Jansen type 156400; Chondrodysplasia, Blomstrand type 215045

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: PTH1R