Skeletal dysplasiaGene: GHR
Not listed in SD nosology paper - growth disorder. Many cases; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Laron dwarfism, 262500; Growth hormone insensitivity; increased responsiveness to growth hormone 604271
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: GHR; Initial rating suggestion: green
Created: 6 Mar 2019, 11:36 a.m.
Comment on list classification: Used diagnostically by Ana Beleza (Guy's and St Thomas' NHS Foundation Trust)
Created: 21 Jun 2016, 12:49 p.m.
Added phenotypes increased responsiveness to growth hormone 604271; Laron dwarfism, 262500; Growth hormone insensitivity for gene: GHR
Source NHS GMS was added to GHR. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
Mode of inheritance for GHR was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
GHR was created by sleigh
GHR was added to Unexplained skeletal dysplasiapanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert Review Red