Primary Ovarian Insufficiency_Premature Ovarian Failure

Gene: NBN

Green List (high evidence)

NBN (nibrin)
EnsemblGeneIds (GRCh38): ENSG00000104320
EnsemblGeneIds (GRCh37): ENSG00000104320
OMIM: 602667, Gene2Phenotype
NBN is in 19 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Primary ovarian insufficiency is a prominent feature of the condition for affected females.
Sources: Literature
Created: 6 Dec 2021, 3:29 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nijmegen breakage syndrome MIM#251260

Publications

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

6 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: nbn has been classified as Green List (High Evidence).

6 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: nbn has been classified as Green List (High Evidence).

6 Dec 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: NBN was added gene: NBN was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature Mode of inheritance for gene: NBN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NBN were set to 34794894; 20444919 Phenotypes for gene: NBN were set to Nijmegen breakage syndrome MIM#251260 Review for gene: NBN was set to GREEN gene: NBN was marked as current diagnostic