Hypogonadotropic hypogonadism idiopathic

Gene: FSHB

Green List (high evidence)

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

2 reviews

Simon Thomas (Wessex Regional Genetics Laboratory)

Green List (high evidence)

Martina Owens (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust)

Green List (high evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Hypogonadotropic hypogonadism type 24 (OMIM 229070)
OMIM
136530
Clinvar variants
Variants in FSHB
Penetrance
None
Panels with this gene

History Filter Activity

22 Mar 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: fshb has been classified as Green List (High Evidence).

22 Mar 2019, Gel status: 1

Added New Source

Ivone Leong (Genomics England Curator)

Source Wessex and West Midlands GLH was added to FSHB.

15 Mar 2019, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Added phenotypes Hypogonadotropic hypogonadism type 24 (OMIM 229070) for gene: FSHB

15 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: FSHB was added gene: FSHB was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS Mode of inheritance for gene: FSHB was set to BIALLELIC, autosomal or pseudoautosomal