Hypogonadotropic hypogonadism (GMS)
Gene: FSHBEnsemblGeneIds (GRCh38): ENSG00000131808
EnsemblGeneIds (GRCh37): ENSG00000131808
OMIM: 136530, Gene2Phenotype
FSHB is in 3 panels
2 reviews
Simon Thomas (Wessex Regional Genetics Laboratory)
Martina Owens (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust)
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
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: fshb has been classified as Green List (High Evidence).
Added New Source
Ivone Leong (Genomics England Curator)Source Wessex and West Midlands GLH was added to FSHB.
Set Phenotypes
Ivone Leong (Genomics England Curator)Added phenotypes Hypogonadotropic hypogonadism type 24 (OMIM 229070) for gene: FSHB
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