Renal Tubulopathies and related disorders
Gene: PTH1REnsemblGeneIds (GRCh38): ENSG00000160801
EnsemblGeneIds (GRCh37): ENSG00000160801
OMIM: 168468, Gene2Phenotype
PTH1R is in 15 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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
-
- 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
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