Primary ovarian insufficiency
Gene: NOBOXEnsemblGeneIds (GRCh38): ENSG00000106410
EnsemblGeneIds (GRCh37): ENSG00000106410
OMIM: 610934, Gene2Phenotype
NOBOX is in 1 panel
3 reviews
Louise IZATT (GSTT Clinical Genetics Service)
Clear cause of POI in some affected individuals.Created: 9 Jun 2017, 3:24 p.m.
Publications
Arianna Tucci (Genomics England Curator)
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
Ellen McDonagh (Genomics England Curator)
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.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Other
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Premature ovarian failure 5,611548
- Premature Ovarian Failure
- OMIM
- 610934
- Clinvar variants
- Variants in NOBOX
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoting to Version 1 on 31-05-2017, after internal curation and review.
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Arianna Tucci (Genomics England Curator)Phenotypes for NOBOX were set to Premature ovarian failure 5,611548; Premature Ovarian Failure
Set publications
Arianna Tucci (Genomics England Curator)Publications for NOBOX were set to 25514101
Set Mode of Inheritance
Arianna Tucci (Genomics England Curator)Mode of inheritance for NOBOX was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)NOBOX was added to Early onset familial premature ovarian insufficiencypanel. Source: Other
Set Mode of Inheritance, Added New Source
Ellen McDonagh (Genomics England Curator)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
Added New Source
Ellen McDonagh (Genomics England Curator)NOBOX was added to Early onset familial premature ovarian insufficiencypanel. Sources: Radboud University Medical Center, Nijmegen
Created
Ellen McDonagh (Genomics England Curator)NOBOX was created by ellenmcdonagh