1. Panels
  2. Primary Ovarian Insufficiency_Premature Ovarian Failure
  3. GNRH1
STRs in panel
Prev Next
Regions in panel
Prev Next

Primary Ovarian Insufficiency_Premature Ovarian Failure

Gene: GNRH1

Green List (high evidence)
GNRH1 (gonadotropin releasing hormone 1)
EnsemblGeneIds (GRCh38): ENSG00000147437
EnsemblGeneIds (GRCh37): ENSG00000147437
OMIM: 152760, Gene2Phenotype
GNRH1 is in 4 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 6 families reported.
Created: 18 Jul 2020, 7:22 a.m. | Last Modified: 18 Jul 2020, 7:22 a.m.
Panel Version: 0.3384

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 18 Jul 2020, 7:22 a.m.
Last Modified: 18 Jul 2020, 7:22 a.m.
Panel version: Imported from Mendeliome panel version 0.3384

Lauren Akesson (Royal Melbourne Hospital)

Green List (high evidence)

Three unrelated families with homozygous frameshift truncating variants.

PMID: 32134721: two siblings from consanguineous parents with normosmic idiopathic hypogonadotropic hypogonadism found to have a homozygous frameshift truncating variant in GNRH1. The unaffected parents were both heterozygous.

PMID: 19567835: one proband with a severe normosmic isolated hypogonadotropic hypogonadism found to have a homozygous frameshift truncating variant in GNRH1.

PMID: 19535795: two siblings with isolated hypogonadotropic hypogonadism found to have a homozygous frameshift truncating variant in GNRH1. Unaffected parents and siblings were either wildtype or heterozygous.
Created: 2 Jul 2020, 11:56 p.m. | Last Modified: 2 Jul 2020, 11:56 p.m.
Panel Version: 0.18

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Hypogonadotropic hypogonadism 12 with or without anosmia (MIM# 614841)

Publications

Created: 2 Jul 2020, 11:56 p.m.
Last Modified: 2 Jul 2020, 11:56 p.m.
Panel version: 0.18

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypogonadotropic hypogonadism 12 with or without anosmia 614841
OMIM
152760
Clinvar variants
Variants in GNRH1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: gnrh1 has been classified as Green List (High Evidence).

9 Jul 2020, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

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

9 Jul 2020, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: GNRH1 were set to

24 Jun 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: GNRH1 was added gene: GNRH1 was added to Amenorrhoea. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: GNRH1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GNRH1 were set to ?Hypogonadotropic hypogonadism 12 with or without anosmia 614841