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DDG2P

Gene: BNC2

Green List (high evidence)

BNC2 (basonuclin 2)
EnsemblGeneIds (GRCh38): ENSG00000173068
EnsemblGeneIds (GRCh37): ENSG00000173068
OMIM: 608669, Gene2Phenotype
BNC2 is in 6 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

New gene:disorder association added to DDG2P, September 2019: Congenital Lower Urinary Tract Obstruction. Disease confidence rating in DDG2P: confirmed. DDG2P mutation consequence: loss of function. DDG2P allelic requirement: monoallelic.
Created: 8 Oct 2019, 3:13 p.m. | Last Modified: 8 Oct 2019, 3:13 p.m.
Panel Version: 1.130

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • Congenital Lower Urinary Tract Obstruction
OMIM
608669
Clinvar variants
Variants in BNC2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Oct 2019, Gel status: 3

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

Rebecca Foulger (Genomics England curator)

gene: BNC2 was added gene: BNC2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: BNC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: BNC2 were set to 31051115 Phenotypes for gene: BNC2 were set to Congenital Lower Urinary Tract Obstruction