Primary ovarian insufficiency

Gene: NBN

Red List (low evidence)

NBN (nibrin)
EnsemblGeneIds (GRCh38): ENSG00000104320
EnsemblGeneIds (GRCh37): ENSG00000104320
OMIM: 602667, Gene2Phenotype
NBN is in 23 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

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.

History Filter Activity

22 Jun 2017, Gel status: 1

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

22 Jun 2017, Gel status: 1

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

31 May 2017, Gel status: 4

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoting to Version 1 on 31-05-2017, after internal curation and review.

30 May 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

30 May 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

25 May 2017, Gel status: 0

Created

Arianna Tucci (Genomics England Curator)

NBN was created by arianna

25 May 2017, Gel status: 0

Added New Source

Arianna Tucci (Genomics England Curator)

NBN was added to Early onset familial premature ovarian insufficiencypanel. Sources: Literature