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  2. Primary Ovarian Insufficiency_Premature Ovarian Failure
  3. POR
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Primary Ovarian Insufficiency_Premature Ovarian Failure

Gene: POR

Green List (high evidence)
POR (cytochrome p450 oxidoreductase)
EnsemblGeneIds (GRCh38): ENSG00000127948
EnsemblGeneIds (GRCh37): ENSG00000127948
OMIM: 124015, Gene2Phenotype
POR is in 13 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Clinical presentation is primarily with a DSD phenotype but bi-allelic variants identified in menstrual cycle disorders/infertility.
Created: 15 Dec 2020, 9:21 a.m. | Last Modified: 15 Dec 2020, 9:21 a.m.
Panel Version: 0.180

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Disordered steroidogenesis due to cytochrome P450 oxidoreductase, MIM#613571

Publications

Created: 15 Dec 2020, 9:21 a.m.
Last Modified: 15 Dec 2020, 9:21 a.m.
Panel version: 0.180

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Disordered steroidogenesis due to cytochrome P450 oxidoreductase, MIM#613571
OMIM
124015
Clinvar variants
Variants in POR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

15 Dec 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: POR were changed from to Disordered steroidogenesis due to cytochrome P450 oxidoreductase, MIM#613571

15 Dec 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: POR were set to

15 Dec 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: POR was changed from to BIALLELIC, autosomal or pseudoautosomal

17 Jun 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

gene: POR was added gene: POR was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: POR was set to