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Fetal anomalies

Gene: PTH1R

Green List (high evidence)

PTH1R (parathyroid hormone 1 receptor)
EnsemblGeneIds (GRCh38): ENSG00000160801
EnsemblGeneIds (GRCh37): ENSG00000160801
OMIM: 168468, Gene2Phenotype
PTH1R is in 8 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 4 Apr 2019, 10:28 a.m.
DDG2P rating in original PAGE list: Confirmed for PRIMARY FAILURE OF TOOTH ERUPTION, Confirmed for JANSEN METAPHYSEAL CHONDRODYSPLASIA, Confirmed for EIKEN SKELETAL DYSPLASIA, and Confirmed for CHONDRODYSPLASIA BLOMSTRAND TYPE.
Created: 11 Dec 2018, 9:05 a.m.
In the original PAGE file, MOP listed as LOF for PRIMARY FAILURE OF TOOTH ERUPTION, EIKEN SKELETAL DYSPLASIA and CHONDRODYSPLASIA BLOMSTRAND TYPE, and listed as Activating for JANSEN METAPHYSEAL CHONDRODYSPLASIA.
Created: 8 Nov 2018, 4:45 p.m.

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
Phenotypes
  • CHONDRODYSPLASIA BLOMSTRAND TYPE
  • EIKEN SKELETAL DYSPLASIA
  • JANSEN METAPHYSEAL CHONDRODYSPLASIA
  • PRIMARY FAILURE OF TOOTH ERUPTION
OMIM
168468
Clinvar variants
Variants in PTH1R
Penetrance
None
Panels with this gene

History Filter Activity

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes CHONDRODYSPLASIA BLOMSTRAND TYPE for gene: PTH1R

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes EIKEN SKELETAL DYSPLASIA for gene: PTH1R

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes JANSEN METAPHYSEAL CHONDRODYSPLASIA for gene: PTH1R

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: PTH1R was added gene: PTH1R was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PTH1R was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: PTH1R were set to PRIMARY FAILURE OF TOOTH ERUPTION