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  3. HSF2BP
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Primary Ovarian Insufficiency_Premature Ovarian Failure

Gene: HSF2BP

Green List (high evidence)
HSF2BP (heat shock transcription factor 2 binding protein)
EnsemblGeneIds (GRCh38): ENSG00000160207
EnsemblGeneIds (GRCh37): ENSG00000160207
OMIM: 604554, Gene2Phenotype
HSF2BP is in 2 panels

2 reviews

Elena Tucker (Murdoch Children's Research Institute)

Green List (high evidence)

An additional two patients are described with homozygous missense variants, with supportive in vitro functional assay. PMID: 35174157
Now there are 5 affected patients from three independent families and three different biallelic missense variants associated with the condition.
Created: 22 Feb 2022, 2:34 a.m. | Last Modified: 22 Feb 2022, 2:34 a.m.
Panel Version: 0.287

Phenotypes
premature ovarian insufficiency

Publications

Created: 22 Feb 2022, 2:34 a.m.
Last Modified: 22 Feb 2022, 2:34 a.m.
Panel version: 0.287

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single family reported where homozygous missense variant segregated with POF in three sisters.
Sources: Expert list
Created: 24 Mar 2021, 12:45 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Premature ovarian failure, OMIM#619245

Publications

Created: 24 Mar 2021, 12:45 a.m.

Panel version: 0.191

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Premature ovarian failure, OMIM#619245
OMIM
604554
Clinvar variants
Variants in HSF2BP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Feb 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: HSF2BP were set to 32845237

22 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hsf2bp has been classified as Green List (High Evidence).

24 Mar 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hsf2bp has been classified as Red List (Low Evidence).

24 Mar 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HSF2BP was added gene: HSF2BP was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Expert list 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