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Prepair 1000+

Gene: GHR

Green List (high evidence)

GHR (growth hormone receptor)
EnsemblGeneIds (GRCh38): ENSG00000112964
EnsemblGeneIds (GRCh37): ENSG00000112964
OMIM: 600946, Gene2Phenotype
GHR is in 10 panels

1 review

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

Laron syndrome is characterized by insensitivity to growth hormone and short stature.
Created: 21 Jan 2025, 2:43 a.m. | Last Modified: 21 Jan 2025, 2:43 a.m.
Panel Version: 1.1257

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Laron dwarfism, MIM#262500

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Laron dwarfism, MIM#262500
OMIM
600946
Clinvar variants
Variants in GHR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ghr has been classified as Green List (High Evidence).

23 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GHR were changed from Laron dwarfism, 262500 (3) to Laron dwarfism, MIM#262500

23 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GHR were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Laron dwarfism, 262500 (3) for gene: GHR

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GHR was added gene: GHR was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: GHR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GHR were set to Laron dwarfism, 262500 (3)