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  3. GNRHR
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Pituitary hormone deficiency

Gene: GNRHR

Green List (high evidence)
GNRHR (gonadotropin releasing hormone receptor)
EnsemblGeneIds (GRCh38): ENSG00000109163
EnsemblGeneIds (GRCh37): ENSG00000109163
OMIM: 138850, Gene2Phenotype
GNRHR is in 3 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, 12:03 p.m.
Comment on list classification: Promoted from amber to green. GNRHR is confirmed to be associated with Hypogonadotropic hypogonadism in OMIM but no phenotypes have been listed in Gene2Phenotype. It is also a green gene in the Hypogonadotropic hypogonadism panel (Version 1.15). There are >3 unrelated cases of patients with Hypogonadotropic hypogonadism with variants in the GNRHR gene listed in OMIM.
Created: 14 Dec 2018, 3:59 p.m.
Created: 14 Dec 2018, 3:59 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
Phenotypes
  • Hypogonadotropic hypogonadism 7 without anosmia (146110)
OMIM
138850
Clinvar variants
Variants in GNRHR
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: Comment on list classification

8 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

14 Dec 2018, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

10 Dec 2018, Gel status: 2

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

Ivone Leong (Genomics England Curator)

gene: GNRHR was added gene: GNRHR was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Literature Mode of inheritance for gene: GNRHR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GNRHR were set to Hypogonadotropic hypogonadism 7 without anosmia (146110)