Hypogonadotropic hypogonadism idiopathic

Gene: GNRH1

Amber List (moderate evidence)

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

4 reviews

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

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

Simon Thomas (Wessex Regional Genetics Laboratory)

Red List (low evidence)

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

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

Green List (high evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Wessex and West Midlands GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • ?Hypogonadotropic hypogonadism 12 with or without anosmia, OMIM:614841
Tags
Q2_21_rating
OMIM
152760
Clinvar variants
Variants in GNRH1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Mar 2021, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: GNRH1.

29 Mar 2021, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: GNRH1 were changed from Hypogonadotropic hypogonadism 12 with or without anosmia, OMIM:614841 to ?Hypogonadotropic hypogonadism 12 with or without anosmia, OMIM:614841

29 Mar 2021, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: GNRH1 were changed from Hypogonadotropic hypogonadism type 12 (OMIM 614841) to Hypogonadotropic hypogonadism 12 with or without anosmia, OMIM:614841

29 Mar 2021, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: GNRH1 were set to

22 Mar 2019, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: gnrh1 has been classified as Amber List (Moderate Evidence).

22 Mar 2019, Gel status: 1

Added New Source

Ivone Leong (Genomics England Curator)

Source Wessex and West Midlands GLH was added to GNRH1.

15 Mar 2019, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Added phenotypes Hypogonadotropic hypogonadism type 12 (OMIM 614841) for gene: GNRH1

15 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: GNRH1 was added gene: GNRH1 was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS Mode of inheritance for gene: GNRH1 was set to BIALLELIC, autosomal or pseudoautosomal