Primary ovarian insufficiency

Gene: PGRMC1

Amber List (moderate evidence)

PGRMC1 (progesterone receptor membrane component 1)
EnsemblGeneIds (GRCh38): ENSG00000101856
EnsemblGeneIds (GRCh37): ENSG00000101856
OMIM: 300435, Gene2Phenotype
PGRMC1 is in 2 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Comment on mode of inheritance: changed from monoallelic to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males). (XLR)- the gene is encoded on chromosome Xq24
Created: 25 Sep 2017, 12:52 p.m.

Arianna Tucci (Genomics England Curator)

I don't know

Comment when marking as ready: Marked as amber as there is some evidence that this could be a cause of POI (please see my review comment)
Created: 30 May 2017, 12:22 p.m.
Not associated with phenotype in OMIM. However, in pubmed: Mansouri et al. (2008) identified a mother and daughter with POI, both of whom carried an X;autosome translocation [t(X;11)(q24;q13)]. Systematic mapping of the Xq breakpoint and performing RNA expression studies revealed reduced expression of PGRMC1. Mutation screening of 67 females with idiopathic POI identified a third patient having a missense mutation (p.H165R). A recent study in Chinese patients with POI identified a novel missense mutation (p. P186S). So, limited evidence to make it a green gene but sufficient to be amber.
Created: 11 May 2017, 9:44 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
premature ovarian insufficiency

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • premature ovarian insufficiency
OMIM
300435
Clinvar variants
Variants in PGRMC1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

25 Sep 2017, Gel status: 2

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for PGRMC1 was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

31 May 2017, Gel status: 2

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoting to Version 1 on 31-05-2017, after internal curation and review.

30 May 2017, Gel status: 2

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

30 May 2017, Gel status: 2

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

11 May 2017, Gel status: 0

Added New Source

Arianna Tucci (Genomics England Curator)

PGRMC1 was added to Early onset familial premature ovarian insufficiencypanel. Sources: Literature

11 May 2017, Gel status: 0

Created

Arianna Tucci (Genomics England Curator)

PGRMC1 was created by arianna