Familial rhabdomyosarcoma

Gene: NBN

Green List (high evidence)

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

1 review

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Causation is clear, at least three cases of rhabdomyosarcoma reported however would expect this to present in a syndromic manner prior to developing a malignancy. Reviewed with Clare Turnbull and Gareth Evans for consensus.
Created: 21 Dec 2017, 10:34 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nijmegen breakage syndrome, 251260

History Filter Activity

21 Dec 2017, Gel status: 3

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

21st December 2017. Panel reviews were assessed, and panel was revised according to reviews and further curation by Helen Brittain.

21 Dec 2017, Gel status: 3

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

21 Dec 2017, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for NBN were set to Nijmegen breakage syndrome, 251260

21 Dec 2017, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for NBN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

21 Dec 2017, Gel status: 3

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

21 Dec 2017, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

NBN was added to Familial rhabdomyosarcoma panel. Sources: Literature

21 Dec 2017, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

NBN was created by Louise Daugherty