GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: GHR

GHR (growth hormone receptor)
EnsemblGeneIds (GRCh38): ENSG00000112964
EnsemblGeneIds (GRCh37): ENSG00000112964
OMIM: 600946, Gene2Phenotype
GHR is in 9 panels

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Not listed in SD nosology paper - growth disorder. Many cases; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Laron dwarfism, 262500; Growth hormone insensitivity; increased responsiveness to growth hormone 604271

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

increased responsiveness to growth hormone 604271
Laron dwarfism, 262500
Growth hormone insensitivity

OMIM

600946

Clinvar variants

Variants in GHR

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: GHR was added gene: GHR was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: GHR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: GHR were set to increased responsiveness to growth hormone 604271; Laron dwarfism, 262500; Growth hormone insensitivity

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: GHR