Primary ovarian insufficiency
Gene: BMP15
Clearly important cause of POI phenotypeCreated: 9 Jun 2017, 1:37 p.m.
Comment when marking as ready: Marked as green as clearly associated with the phenotypeCreated: 22 May 2017, 8:35 a.m.
Monoallelic mutations in females clearly associated with the phenotype. At least 3 missense mutations observed in patients and never in controlsCreated: 30 Mar 2017, 4:03 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Premature ovarian failure, 300510
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, 2:38 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).
Mode of inheritance for BMP15 was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
This gene has been classified as Green List (High Evidence).
BMP15 was added to Early onset familial premature ovarian insufficiencypanel. Source: Other
BMP15 was added to Early onset familial premature ovarian insufficiencypanel. Source: Illumina TruGenome Clinical Sequencing Services
BMP15 was added to Early onset familial premature ovarian insufficiencypanel. Source: Radboud University Medical Center, Nijmegen
BMP15 was added to Early onset familial premature ovarian insufficiencypanel. Sources: Expert list
BMP15 was created by ellenmcdonagh