Primary ovarian insufficiency
Gene: PSMC3IP
Comment when marking as ready: Marked a amber as only reported in one familyCreated: 30 May 2017, 12:31 p.m.
One homozygous mutations initially reported in affected members of a large consanguineous Arab Palestinian pedigree with ovarian dysgenesis. A subsequent study in a Swedish cohort of women with POI failed to find any mutations.Created: 11 May 2017, 9:18 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ovarian dysgenesis 3, 614324
Publications
This gene is also on The University of Chicago Genetic Services Laboratories Next Generation Sequencing Panel for Premature Ovarian Failure.Created: 13 Jun 2016, 2:40 p.m.
Promoting to Version 1 on 31-05-2017, after internal curation and review.
This gene has been classified as Amber List (Moderate Evidence).
Publications for PSMC3IP were set to 21963259; 24481226
This gene has been classified as Amber List (Moderate Evidence).
PSMC3IP was added to Early onset familial premature ovarian insufficiencypanel. Source: Other
PSMC3IP was added to Early onset familial premature ovarian insufficiencypanel. Source: Radboud University Medical Center, Nijmegen
PSMC3IP was added to Early onset familial premature ovarian insufficiencypanel. Sources: Expert list
PSMC3IP was created by ellenmcdonagh