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Newborns main panel

Gene: GNRH1

Green List (high evidence)

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

1 review

Arina Puzriakova (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF)
Created: 31 Dec 2025, 2:36 p.m. | Last Modified: 31 Dec 2025, 2:36 p.m.
Panel Version: 0.499
PMID: 37798680 - 1 case PMID: 19567835 - 1 case PMID: 19535795 - 1 case
Created: 31 Dec 2025, 2:27 p.m. | Last Modified: 31 Dec 2025, 2:27 p.m.
Panel Version: 0.498

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hypogonadotropic hypogonadism 12 with or without anosmia
OMIM
152760
Clinvar variants
Variants in GNRH1
Penetrance
None
Panels with this gene

History Filter Activity

31 Dec 2025, Gel status: 3

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

Arina Puzriakova (Genomics England Curator)

gene: GNRH1 was added gene: GNRH1 was added to Newborns main panel. Sources: Expert Review Green 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