Primary ovarian insufficiency
Gene: NOBOX
Clear cause of POI in some affected individuals.Created: 9 Jun 2017, 3:24 p.m.
Publications
Associated with phenotype in OMIM; more than 3 variants describedCreated: 10 May 2017, 11:45 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Premature ovarian failure 5, 611548
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, 2:39 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).
Phenotypes for NOBOX were set to Premature ovarian failure 5,611548; Premature Ovarian Failure
Publications for NOBOX were set to 25514101
Mode of inheritance for NOBOX was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
NOBOX was added to Early onset familial premature ovarian insufficiencypanel. Source: Other
NOBOX was added to Early onset familial premature ovarian insufficiencypanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene NOBOX was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NOBOX was added to Early onset familial premature ovarian insufficiencypanel. Sources: Radboud University Medical Center, Nijmegen
NOBOX was created by ellenmcdonagh