Primary Ovarian Insufficiency_Premature Ovarian Failure
Gene: POU5F1
Two additional Brazilian cases reported with heterozygous missense, however both had other variants in HK3 and one of the missense (p.Trp29Cys) had 32 hets and 1 homozygote in gnomAD v2.1.Created: 29 Nov 2021, 12:31 a.m. | Last Modified: 29 Nov 2021, 12:31 a.m.
Panel Version: 0.220
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Primary ovarian sufficiency
Publications
Single individual reported in 2011 and a missense variant.Created: 11 Dec 2020, 5:01 a.m. | Last Modified: 11 Dec 2020, 5:01 a.m.
Panel Version: 0.130
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Premature ovarian failure
Publications
Publications for gene: POU5F1 were set to 21273125
Gene: pou5f1 has been classified as Red List (Low Evidence).
Phenotypes for gene: POU5F1 were changed from to Premature ovarian failure
Publications for gene: POU5F1 were set to
Mode of inheritance for gene: POU5F1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
gene: POU5F1 was added gene: POU5F1 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD Mode of inheritance for gene: POU5F1 was set to Unknown