Pigmentary skin disorders

Gene: BNC2

Red List (low evidence)

BNC2 (basonuclin 2)
EnsemblGeneIds (GRCh38): ENSG00000173068
EnsemblGeneIds (GRCh37): ENSG00000173068
OMIM: 608669, Gene2Phenotype
BNC2 is in 4 panels

1 review

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: BNC2; Suggested initial gene rating: Red; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 31 Jan 2019, 11:31 a.m.

Details

Sources
  • London North GLH
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Pigmentation, susceptibility to facial pigmented spots
OMIM
608669
Clinvar variants
Variants in BNC2
Penetrance
None
Panels with this gene

History Filter Activity

18 Feb 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to BNC2.

31 Jan 2019, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: BNC2 was added gene: BNC2 was added to Pigmentary skin disorders. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: BNC2 was set to Phenotypes for gene: BNC2 were set to Pigmentation, susceptibility to facial pigmented spots