Monogenic hearing loss
Gene: BDP1

BDP1 (B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB)
EnsemblGeneIds (GRCh38): ENSG00000145734
EnsemblGeneIds (GRCh37): ENSG00000145734
OMIM: 607012, Gene2Phenotype
BDP1 is in 2 panels

5 reviews

Eleanor Williams (Genomics England Curator)

After review with the NHS GMS hearing specialist group on 2019-02-13 it was decided to keep this gene red.
Created: 18 Feb 2019, 10:20 a.m.

Created: 18 Feb 2019, 10:20 a.m.

Panel version: 1.83

Emma Ashton (Great Ormond Street Hospital)

I don't know

1 report ?DM HGMD
Created: 17 Feb 2019, 4:35 p.m.

Created: 17 Feb 2019, 4:35 p.m.

Panel version: 1.59

Maria Bitner-Glindzicz (UCL)

Red List (low evidence)

Ellen McDonagh (Genomics England Curator)

Comment when marking as ready: One study in a consanguineous Qatari family found a mutation in BDP1 associated with hereditary hearing loss. More evidence required.
Created: 23 Feb 2016, 10:15 a.m.

Comment on list classification: Demoted from amber to red, as more than one reviewer suggests this should be red.
Created: 23 Feb 2016, 10:13 a.m.

Created: 23 Feb 2016, 10:13 a.m.

Panel version: 0.345

Jun Shen (Harvard Medical School)

Red List (low evidence)

BDP1 is not associated with a phenotype entry in OMIM.
Created: 9 Feb 2016, 10:05 a.m.

BDP1 is not associated with a phenotype entry in OMIM.
Created: 7 Feb 2016, 3:39 p.m.

Publications

PMID:11040218
11161782

Details

Sources

Expert Review Red
Expert
Radboud University Medical Center, Nijmegen
UKGTN

Phenotypes

No OMIM phenotypeHearing loss (Girotto (2013) PLoS One 8,e80323)
PMID: 24312468 moderate to severe hearing impairment

OMIM

607012

Clinvar variants

Variants in BDP1

Penetrance

Complete

Publications

Panels with this gene