Primary ovarian insufficiency
Gene: NBN

NBN (nibrin)
EnsemblGeneIds (GRCh38): ENSG00000104320
EnsemblGeneIds (GRCh37): ENSG00000104320
OMIM: 602667, Gene2Phenotype
NBN is in 24 panels

2 reviews

Louise IZATT (GSTT Clinical Genetics Service)

Red List (low evidence)

POI is noted but these patients are usually identified because of their microcephaly and immunodeficiecny not POI.
Created: 9 Jun 2017, 4:26 p.m.

POI is shown in a study listed above
Created: 9 Jun 2017, 3:22 p.m.

Publications

PMID: 20444919

Created: 9 Jun 2017, 4:26 p.m.

Panel version: 1.0

Arianna Tucci (Genomics England Curator)

Comment when marking as ready: Marked as red following expert review - patients would normally present with microcephaly / immunodeficiency and would be recruited under a different disease category
Created: 22 Jun 2017, 1:44 p.m.

Comment when marking as ready: Marked as green as POI can be a feature of Nijmegen breakage syndrome
Created: 30 May 2017, 12:14 p.m.

POI can be a feature of Nijmegen breakage syndrome

Created: 26 May 2017, 11:01 a.m.

Created: 26 May 2017, 11:01 a.m.

Panel version: 0.73

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Literature

Phenotypes

Nijmegen breakage syndrome 251260

OMIM

602667

Clinvar variants

Variants in NBN

Penetrance

Complete

Publications

20301355

Panels with this gene