Primary ovarian insufficiency
Gene: MCM8
Clear published evidence of multiple affected individuals with hypergonadotropic hypogonadismCreated: 9 Jun 2017, 3:15 p.m.
Comment when marking as ready: Marked as green as mutation described in 3 families with hypergonadotropic primary amenorrheaCreated: 22 May 2017, 9:56 a.m.
Associated with primary amenorrhea in 3 unrelated consanguineous families; 3 variants reported.
Functional role established in oocites.Created: 11 May 2017, 8:55 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Premature ovarian failure 10, 612885
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 Green List (High Evidence).
Publications for MCM8 were set to 25873734; 25437880; 22771120
This gene has been classified as Green List (High Evidence).
MCM8 was added to Early onset familial premature ovarian insufficiencypanel. Source: Other
MCM8 was added to Early onset familial premature ovarian insufficiencypanel. Sources: Expert list
MCM8 was created by ellenmcdonagh