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Newborns main panel

Gene: GHRHR

Green List (high evidence)
GHRHR (growth hormone releasing hormone receptor)
EnsemblGeneIds (GRCh38): ENSG00000106128
EnsemblGeneIds (GRCh37): ENSG00000106128
OMIM: 139191, Gene2Phenotype
GHRHR is in 4 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
Genetic causes and treatment of isolated growth hormone deficiency-an update - PubMed (nih.gov)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Isolated growth hormone deficiency type 4
OMIM
139191
Clinvar variants
Variants in GHRHR
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Isolated growth hormone deficiency type 4 for gene: GHRHR

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to GHRHR. Added phenotypes Isolated growth hormone deficiency type 4 for gene: GHRHR Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to GHRHR. Added phenotypes Isolated growth hormone deficiency type 4 for gene: GHRHR Rating Changed from No List (delete) to Amber List (moderate evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to GHRHR. Rating Changed from Amber List (moderate evidence) to No List (delete)

27 Mar 2023, Gel status: 2

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

Mafalda Gomes (Genomics England Curator)

gene: GHRHR was added gene: GHRHR was added to Newborns main panel. Sources: Expert Review Amber Mode of inheritance for gene: GHRHR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GHRHR were set to Isolated growth hormone deficiency type 4