Hypogonadotropic hypogonadism
Gene: FSHB

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

3 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. Found in 2/4 sources. Five variants reported in at least seven cases (homozygous or compound heterozygous). Two expert reviewers recommend Green
Created: 13 Oct 2016, 7:56 a.m.

Comment on publications: At least four LOF variants identified in different families
Created: 26 May 2016, 9:03 a.m.

Created: 26 May 2016, 8:57 a.m.

Panel version: 0.13

Mehul Dattani (UCL Institute of Child Health)

Green List (high evidence)

Created: 24 May 2016, 12:18 p.m.

Panel version: 0.2

Louise IZATT (GSTT Clinical Genetics Service)

Green List (high evidence)

Created: 21 May 2016, 1:18 p.m.

Panel version: 0.2

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Illumina TruGenome Clinical Sequencing Services
Radboud University Medical Center, Nijmegen
OMIM

Phenotypes

Hypogonadotropic hypogonadism 24 without anosmia 229070
Isolated Follicle-Stimulating Hormone Deficiency

OMIM

136530

Clinvar variants

Variants in FSHB

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

28 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

28th Oct 2016: This panel was revised after external expert review and internal discussion. For several genes that have been shown to contribute to the disorder in a digenic/polygenic manner, the decision was made to only include genes as green if biallelic variants had been reported independently from other genes. Genes with a monoallelic mechanism, that have been shown in some studies in conjunction with variants in other genes, were made red as monoallelic variants in these genes may not provide a complete diagnosis.

26 May 2016, Gel status: 4