Primary Ovarian Insufficiency_Premature Ovarian Failure

Gene: FSHR

Green List (high evidence)

FSHR (follicle stimulating hormone receptor)
EnsemblGeneIds (GRCh38): ENSG00000170820
EnsemblGeneIds (GRCh37): ENSG00000170820
OMIM: 136435, Gene2Phenotype
FSHR is in 3 panels

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Ovarian dysgenesis 1 233300
  • Ovarian response to FSH stimulation 276400
OMIM
136435
Clinvar variants
Variants in FSHR
Penetrance
None
Panels with this gene

History Filter Activity

17 Jun 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: FSHR was added gene: FSHR was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: FSHR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FSHR were set to Ovarian dysgenesis 1 233300; Ovarian response to FSH stimulation 276400