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  3. GHRH
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Pituitary hormone deficiency

Gene: GHRH

Red List (low evidence)
GHRH (growth hormone releasing hormone)
EnsemblGeneIds (GRCh38): ENSG00000118702
EnsemblGeneIds (GRCh37): ENSG00000118702
OMIM: 139190, Gene2Phenotype
GHRH is in 1 panel

1 review

Ivone Leong (Genomics England Curator)

There is a mouse GHRH KO model that showed pituitary hormone deficiency; however, not enough evidence from human cases have been found.
Created: 14 Dec 2018, 3:43 p.m.
Created: 14 Dec 2018, 3:43 p.m.

Panel version: 0.58

Details

Mode of Inheritance
Unknown
Sources
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • ?Isolated growth hormone deficiency due to defect in GHRF
  • No OMIM number
OMIM
139190
Clinvar variants
Variants in GHRH
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ivone Leong (Genomics England Curator)

Ivone Leong: There is a mouse GHRH KO model

14 Dec 2018, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: GHRH were set to

10 Dec 2018, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: GHRH was added gene: GHRH was added to Pituitary hormone deficiency. Sources: Illumina TruGenome Clinical Sequencing Services,Literature Mode of inheritance for gene: GHRH was set to Unknown Phenotypes for gene: GHRH were set to ?Isolated growth hormone deficiency due to defect in GHRF; No OMIM number