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  3. GHRHR
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Pituitary hormone deficiency

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

Ivone Leong (Genomics England Curator)

As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Created: 29 Jan 2019, 12:02 p.m.
GHRHR is associated wtih isolated growth hormone deficiency in OMIM only. It is a green gene on the IUGR and IGF abnormalities panel (Version 1.25). There are >3 unrelated cases of patients with growth hormone deficiency who have GHRHR variants.
Created: 10 Dec 2018, 1:29 p.m.
Created: 10 Dec 2018, 1:29 p.m.

Panel version: 0.71

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Growth hormone deficiency, isolated, type IV (618157)
OMIM
139191
Clinvar variants
Variants in GHRHR
Penetrance
None
Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 3

Panel promoted to version 1.0

Ivone Leong (Genomics England Curator)

Ivone Leong: GHRHR is associated wtih isola

8 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

10 Dec 2018, Gel status: 3

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: GHRHR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

10 Dec 2018, Gel status: 3

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

Ivone Leong (Genomics England Curator)

gene: GHRHR was added gene: GHRHR was added to Pituitary hormone deficiency. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Literature Mode of inheritance for gene: GHRHR was set to Unknown Phenotypes for gene: GHRHR were set to Growth hormone deficiency, isolated, type IV (618157)