Primary ovarian insufficiency
Gene: HSF2BPEnsemblGeneIds (GRCh38): ENSG00000160207
EnsemblGeneIds (GRCh37): ENSG00000160207
OMIM: 604554, Gene2Phenotype
HSF2BP is in 1 panel
2 reviews
Ivone Leong (Genomics England Curator)
Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM but not in Gene2Phenotype. There is currently not enough evidence to support gene-disease association. This gene has been given a Red rating.Created: 13 May 2021, 2:18 p.m. | Last Modified: 13 May 2021, 2:18 p.m.
Panel Version: 1.27
Zornitza Stark (Australian Genomics)
Single family reported where homozygous missense variant segregated with POF in three sisters.
Sources: LiteratureCreated: 17 Apr 2021, 1:36 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Premature ovarian failure, OMIM#619245
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Premature ovarian failure 19, OMIM:619245
- OMIM
- 604554
- Clinvar variants
- Variants in HSF2BP
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: hsf2bp has been classified as Red List (Low Evidence).
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: HSF2BP were changed from Premature ovarian failure, OMIM#619245 to Premature ovarian failure 19, OMIM:619245
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)gene: HSF2BP was added gene: HSF2BP was added to Primary ovarian insufficiency. Sources: Literature Mode of inheritance for gene: HSF2BP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HSF2BP were set to 32845237 Phenotypes for gene: HSF2BP were set to Premature ovarian failure, OMIM#619245 Review for gene: HSF2BP was set to RED