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Hearing loss

Gene: BDP1

Red List (low evidence)

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.

Emma Ashton (Great Ormond Street Hospital)

I don't know

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

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.

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

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

History Filter Activity

23 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

23 Feb 2016, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for BDP1 were set to PMID: 11040218; 11161782; 24312468

23 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

24 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

BDP1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

BDP1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

BDP1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert