Skeletal dysplasia

Gene: PTH1R

Green List (high evidence)

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 Lester

Created: 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

I don't know

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: green

Created: 6 Mar 2019, 11:36 a.m.

Green List (high evidence)

Listed as associated with Skeletal Dysplasia by Gene Advisor (June 2016), Steve Abbs

Created: 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.

Green List (high evidence)

Tier 1

Created: 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