Differences of Sex Development
Gene: FSHR

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

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

PMID: 16630814, 7553856, 9020851, 9769327, 20087398, 26911863 - Biallelic loss of function variants in FSHR are a well-established cause of ovarian dysgenesis in females. Variable degrees of spermatogenic failure were also reported in males. A null mouse model has hypogonadism and also functional assays supporting loss of function as the mechanism of disease. Homozygosity for the Finnish founder Ala189Val is a common cause of ovarian dysgenesis in the Finnish population.

PMID: 9854118, 12930928, 12930927, 17721928 - at least four families with ovarian hyperstimulation syndrome reported with monoallelic gain of function variants.
Created: 6 Dec 2024, 12:28 a.m. | Last Modified: 6 Dec 2024, 12:28 a.m.

Panel Version: 0.348

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Ovarian dysgenesis 1 MONDO:0024463; Ovarian hyperstimulation syndrome MONDO:0011972

Publications

PMID: 16630814, 7553856, 9020851, 9769327, 20087398, 9854118, 12930928, 12930927, 17721928, 26911863

Created: 6 Dec 2024, 12:28 a.m.
Last Modified: 6 Dec 2024, 12:28 a.m.
Panel version: 0.348

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Ovarian dysgenesis 1 MONDO:0024463
Ovarian hyperstimulation syndrome MONDO:0011972

OMIM

136435

Clinvar variants

Variants in FSHR

Penetrance

None

Publications

Panels with this gene