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  2. Primary Ovarian Insufficiency_Premature Ovarian Failure
  3. PGRMC1
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Primary Ovarian Insufficiency_Premature Ovarian Failure

Gene: PGRMC1

Red List (low evidence)
PGRMC1 (progesterone receptor membrane component 1)
EnsemblGeneIds (GRCh38): ENSG00000101856
EnsemblGeneIds (GRCh37): ENSG00000101856
OMIM: 300435, Gene2Phenotype
PGRMC1 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

One family with translocation reported and two affected individuals. Another individual identified as part of a cohort with a missense variant (H165R), but the variant is present in >200 hets in gnomad. Subsequent cohort study did not find an association.
Created: 11 Dec 2020, 5:18 a.m. | Last Modified: 11 Dec 2020, 5:18 a.m.
Panel Version: 0.137

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Premature ovarian failure

Publications

Created: 11 Dec 2020, 5:18 a.m.
Last Modified: 11 Dec 2020, 5:18 a.m.
Panel version: 0.137

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genetic Health QLD
Phenotypes
  • Premature ovarian failure
OMIM
300435
Clinvar variants
Variants in PGRMC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Dec 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pgrmc1 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: PGRMC1 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: PGRMC1 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: PGRMC1 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: PGRMC1 was added gene: PGRMC1 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD Mode of inheritance for gene: PGRMC1 was set to Unknown