• 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
GNRH1 (HGNC:4419) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
gonadotropin releasing hormone 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
GRH, GNRH, LHRH
Alias symbols
No aliases found
%HI
8.16(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.15(Read more about gnomAD pLI score)
LOEUF
1.05(Read more about gnomAD LOEUF score)
Cytoband
8p21.2
Genomic Coordinates
GRCh37/hg19: chr8:25276774-25282556 NCBI Ensembl UCSC
GRCh38/hg38: chr8:25419258-25425040 NCBI Ensembl UCSC
MANE Select Transcript
NM_001083111.2 ENST00000421054.7 (Read more about MANE Select)
Function
Stimulates the secretion of gonadotropins; it stimulates the secretion of both luteinizing and follicle-stimulating hormones. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-25965
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • hypogonadotropic hypogonadism 12 with or without anosmia Monarch

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000008.10) (NC_000008.11)