Differences of Sex Development
Gene: FSHBEnsemblGeneIds (GRCh38): ENSG00000131808
EnsemblGeneIds (GRCh37): ENSG00000131808
OMIM: 136530, Gene2Phenotype
FSHB is in 3 panels
1 review
Chirag Patel (Genetic Health Queensland)
At least 6 families reported with biallelic loss of function variants and hypogonadotropic hypogonadism. Null mouse model is sterile.Created: 6 Dec 2024, 12:27 a.m. | Last Modified: 6 Dec 2024, 12:27 a.m.
Panel Version: 0.348
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypogonadotropic hypogonadism 24 without anosmia, MIM#229070
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Hypogonadotropic hypogonadism 24 without anosmia, MIM#229070
- OMIM
- 136530
- Clinvar variants
- Variants in FSHB
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fshb has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: FSHB were changed from to Hypogonadotropic hypogonadism 24 without anosmia, MIM#229070
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: FSHB were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: FSHB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: FSHB was added gene: FSHB was added to Disorders of Sex Differentiation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FSHB was set to Unknown