Skeletal dysplasia
Gene: PTH1R
Metaphyseal dysplasia gp of SD; neonatal osteosclerotic dysplasias gp of SD, disorganized development of skeletal components gp of SD. Gene previously called PTHR1. Several cases reported with overlapping phenotypes.; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Chondrodysplasia, Blomstrand type 215045; Eiken syndrome 600002; Failure of tooth eruption, primary 125350; Metaphyseal chondrodysplasia, Murk Jansen type 156400
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: PTH1R; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Listed as associated with Skeletal Dysplasia by Gene Advisor (June 2016), Steve AbbsCreated: 27 Jul 2016, 9:50 a.m.
Comment on list classification: Used diagnostically by Ana Beleza (Guy's and St Thomas' NHS Foundation Trust)Created: 21 Jun 2016, 1:03 p.m.
Tier 1Created: 17 Jun 2016, 8:07 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Chondrodysplasia, Blomstrand type 215045; Eiken syndrome 600002; Failure of tooth eruption, primary 125350; Metaphyseal chondrodysplasia, Murk Jansen type 156400
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Failure of tooth eruption, primary 125350; Eiken syndrome 600002; Metaphyseal chondrodysplasia, Murk Jansen type 156400; Chondrodysplasia, Blomstrand type 215045 for gene: PTH1R
Source NHS GMS was added to PTH1R. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
Phenotypes for PTH1R were set to Chondrodysplasia, Blomstrand type 215045; Eiken syndrome 600002; Failure of tooth eruption, primary 125350; Metaphyseal chondrodysplasia, Murk Jansen type 156400
Mode of inheritance for PTH1R was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
PTH1R was added to Unexplained skeletal dysplasiapanel. Sources:
PTH1R was created by sleigh