Deafness_IsolatedAndComplex
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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment on list classification: Single family, nonstop variant.
Created: 31 Dec 2019, 3:59 a.m. | Last Modified: 31 Dec 2019, 3:59 a.m.

Panel Version: 0.130

Created: 31 Dec 2019, 3:59 a.m.
Last Modified: 31 Dec 2019, 3:59 a.m.
Panel version: 0.130

Lilian Downie (Victorian Clinical Genetics Services)

Red List (low evidence)

Single case report only. ClinGen expert panel summary: At least 1 variant occurring at the stop codon has been reported in humans. BDP1 was first associated with this disease in humans as early as 2013 (Girotto et al.). Association is seen in at least 1 probands in 1 publications (24312468). Variants in this gene segregated with disease in 3 additional family members. This gene-disease association is supported by an expression study. In summary, there is limited evidence to support this gene-disease association.
Created: 30 Dec 2019, 11:48 p.m. | Last Modified: 30 Dec 2019, 11:48 p.m.

Panel Version: 0.23

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Non syndromic hearing loss

Publications

Created: 30 Dec 2019, 11:48 p.m.
Last Modified: 30 Dec 2019, 11:48 p.m.
Panel version: 0.23

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Melbourne Genomics Health Alliance Deafness Flagship
Victorian Clinical Genetics Services

Phenotypes

Deafness, autosomal recessive 112, MIM#618257

OMIM

607012

Clinvar variants

Variants in BDP1

Penetrance

None

Publications

Panels with this gene