Primary ovarian insufficiency
Gene: PGRMC1Comment 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 Xq24Created: 25 Sep 2017, 12:52 p.m.
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
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)
Promoting to Version 1 on 31-05-2017, after internal curation and review.
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
PGRMC1 was added to Early onset familial premature ovarian insufficiencypanel. Sources: Literature
PGRMC1 was created by arianna