Primary ovarian insufficiency
Gene: FSHB

FSHB (follicle stimulating hormone beta subunit)
EnsemblGeneIds (GRCh38): ENSG00000131808
EnsemblGeneIds (GRCh37): ENSG00000131808
OMIM: 136530, Gene2Phenotype
FSHB is in 3 panels

2 reviews

Louise IZATT (GSTT Clinical Genetics Service)

Clear evidence for primary amenorrhoea
Created: 9 Jun 2017, 2:52 p.m.

Created: 9 Jun 2017, 2:52 p.m.

Panel version: 1.0

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: Marked as green as associated with the phenotype in OMIM, and 3+ variants reported
Created: 22 May 2017, 9:48 a.m.

Associated with primary amenorrhea in OMIM. More than 3 variants reported.
Created: 19 May 2017, 1:39 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypogonadotropic hypogonadism 24 without anosmia 229070

Created: 19 May 2017, 1:39 p.m.

Panel version: 0.13

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Literature

Phenotypes

Hypogonadotropic hypogonadism 24 without anosmia 229070

OMIM

136530

Clinvar variants

Variants in FSHB

Penetrance

Complete

Panels with this gene