Hypogonadotropic hypogonadism (GMS)
Gene: GNRH1

GNRH1 (gonadotropin releasing hormone 1)
EnsemblGeneIds (GRCh38): ENSG00000147437
EnsemblGeneIds (GRCh37): ENSG00000147437
OMIM: 152760, Gene2Phenotype
GNRH1 is in 2 panels

5 reviews

Catherine Snow (Genomics England)

The rating of this gene has been updated to GREEN following NHS Genomic Medicine Service approval.
Created: 31 Jan 2023, 5:03 p.m. | Last Modified: 31 Jan 2023, 5:03 p.m.

Panel Version: 2.5

Created: 31 Jan 2023, 5:03 p.m.
Last Modified: 31 Jan 2023, 5:03 p.m.
Panel version: 2.5

Ivone Leong (Genomics England Curator)

This gene is associated with a relevant phenotype in OMIM but not Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Created: 29 Mar 2021, 1:09 p.m. | Last Modified: 29 Mar 2021, 1:09 p.m.

Panel Version: 1.33

Created: 29 Mar 2021, 1:09 p.m.
Last Modified: 29 Mar 2021, 1:09 p.m.
Panel version: 1.33

Zornitza Stark (Australian Genomics)

Green List (high evidence)

At least 6 families reported.
Created: 18 Jul 2020, 7:21 a.m. | Last Modified: 18 Jul 2020, 7:21 a.m.

Panel Version: 1.8

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypogonadotropic hypogonadism 12 with or without anosmia, MIM# 614841

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 18 Jul 2020, 7:21 a.m.
Last Modified: 18 Jul 2020, 7:21 a.m.
Panel version: 1.8

Simon Thomas (Wessex Regional Genetics Laboratory)

Red List (low evidence)

Rare founder mutation
Created: 22 Mar 2019, 5:03 p.m.

Created: 22 Mar 2019, 5:03 p.m.

Panel version: 0.7

Martina Owens (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust)

Green List (high evidence)

Created: 15 Mar 2019, 11:15 a.m.

Panel version: 0.5

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Wessex and West Midlands GLH
NHS GMS
South West GLH

Phenotypes

?Hypogonadotropic hypogonadism 12 with or without anosmia, OMIM:614841

OMIM

152760

Clinvar variants

Variants in GNRH1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

31 Jan 2023, Gel status: 3

Removed Tag

Catherine Snow (Genomics England)

Tag Q2_21_rating was removed from gene: GNRH1.

31 Jan 2023, Gel status: 3

Added New Source, Status Update

Catherine Snow (Genomics England)

Source Expert Review Green was added to GNRH1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

29 Mar 2021, Gel status: 2