Primary Ovarian Insufficiency_Premature Ovarian Failure
Gene: HSF2BP
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
Single family reported where homozygous missense variant segregated with POF in three sisters.
Sources: Expert listCreated: 24 Mar 2021, 12:45 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Premature ovarian failure, OMIM#619245
Publications
Publications for gene: HSF2BP were set to 32845237
Gene: hsf2bp has been classified as Green List (High Evidence).
Gene: hsf2bp has been classified as Red List (Low Evidence).
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