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  3. PTH1R
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Osteopetrosis

Gene: PTH1R

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

1 review

Eleanor Williams (Genomics England Curator)

This gene has been added to the panel as green on the recommendation of GMS specialist disease group experts.
Created: 20 Aug 2020, 4:32 p.m. | Last Modified: 20 Aug 2020, 4:32 p.m.
Panel Version: 0.3
Created: 20 Aug 2020, 4:32 p.m.
Last Modified: 20 Aug 2020, 4:32 p.m.
Panel version: 0.3

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Chondrodysplasia, Blomstrand type OMIM:215045
  • Metaphyseal chondrodysplasia, Murk Jansen type OMIM:156400
OMIM
168468
Clinvar variants
Variants in PTH1R
Penetrance
None
Panels with this gene

History Filter Activity

15 Mar 2021, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: PTH1R were changed from Chondrodysplasia, Blomstrand type 215045; Metaphyseal chondrodysplasia, Murk Jansen type 156400 to Chondrodysplasia, Blomstrand type OMIM:215045; Metaphyseal chondrodysplasia, Murk Jansen type OMIM:156400

20 Aug 2020, Gel status: 3

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

Catherine Snow (Genomics England)

gene: PTH1R was added gene: PTH1R was added to Osteopetrosis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PTH1R was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: PTH1R were set to Chondrodysplasia, Blomstrand type 215045; Metaphyseal chondrodysplasia, Murk Jansen type 156400