PTH1R

parathyroid hormone 1 receptor
OMIM: 168468
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
JANSEN METAPHYSEAL CHONDRODYSPLASIA 156400, EIKEN SKELETAL DYSPLASIA 600002, PRIMARY FAILURE OF TOOTH ERUPTION 125350, CHONDRODYSPLASIA BLOMSTRAND TYPE 215045
R-numbers: R21
Signed-off version 1.92
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
CHONDRODYSPLASIA BLOMSTRAND TYPE, EIKEN SKELETAL DYSPLASIA, JANSEN METAPHYSEAL CHONDRODYSPLASIA, PRIMARY FAILURE OF TOOTH ERUPTION
Green
in Osteopetrosis
R-numbers: R104.4
Signed-off version 1.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Chondrodysplasia, Blomstrand type 215045, Metaphyseal chondrodysplasia, Murk Jansen type 156400
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Failure of tooth eruption, primary 125350, Eiken syndrome 600002, Metaphyseal chondrodysplasia, Murk Jansen type 156400, Chondrodysplasia, Blomstrand type 215045