Metaphyseal dysplasias
Gene: PTH1R
PTH1R (parathyroid hormone 1 receptor)
EnsemblGeneIds (GRCh38): ENSG00000160801
EnsemblGeneIds (GRCh37): ENSG00000160801
OMIM: 168468, Gene2Phenotype
PTH1R is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000160801
EnsemblGeneIds (GRCh37): ENSG00000160801
OMIM: 168468, Gene2Phenotype
PTH1R is in 15 panels
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Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Failure of tooth eruption, primary 125350
- Eiken syndrome 600002
- Chondrodysplasia, Blomstrand type 215045
- Metaphyseal chondrodysplasia, Murk Jansen type 156400
- OMIM
- 168468
- Clinvar variants
- Variants in PTH1R
- Penetrance
- None
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Calcium and Phosphate disorders
- Metaphyseal dysplasias
- Prepair 1000+
- BabyScreen+ newborn screening
- Osteopetrosis
- Hydrops fetalis
- Macrocephaly_Megalencephaly
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Skeletal Dysplasia_Fetal
- Mendeliome
- Renal Tubulopathies and related disorders
- Hypercalcaemia
History Filter Activity
26 May 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Tiong Tan (Victorian Clinical Genetics Services)gene: PTH1R was added gene: PTH1R was added to Metaphyseal dysplasias. Sources: Victorian Clinical Genetics Services,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; Chondrodysplasia, Blomstrand type 215045; Metaphyseal chondrodysplasia, Murk Jansen type 156400