Genomics England
GMS Panels
Panels
Genes and Entities

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 4.6
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
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.0
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
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 6.0
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