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  2. Primary Ovarian Insufficiency_Premature Ovarian Failure
  3. POU5F1
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Primary Ovarian Insufficiency_Premature Ovarian Failure

Gene: POU5F1

Red List (low evidence)
POU5F1 (POU class 5 homeobox 1)
EnsemblGeneIds (GRCh38): ENSG00000204531
EnsemblGeneIds (GRCh37): ENSG00000204531
OMIM: 164177, Gene2Phenotype
POU5F1 is in 2 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

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

Created: 29 Nov 2021, 12:31 a.m.
Last Modified: 29 Nov 2021, 12:31 a.m.
Panel version: 0.220

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

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

Created: 11 Dec 2020, 5:01 a.m.
Last Modified: 11 Dec 2020, 5:01 a.m.
Panel version: 0.130

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genetic Health QLD
Phenotypes
  • Premature ovarian failure
OMIM
164177
Clinvar variants
Variants in POU5F1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Nov 2021, Gel status: 1

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: POU5F1 were set to 21273125

11 Dec 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pou5f1 has been classified as Red List (Low Evidence).

11 Dec 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: POU5F1 were changed from to Premature ovarian failure

11 Dec 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: POU5F1 were set to

11 Dec 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: POU5F1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

11 Dec 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

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