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Deafness_IsolatedAndComplex

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

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

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

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

History Filter Activity

31 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: bdp1 has been classified as Red List (Low Evidence).

31 Dec 2019, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: BDP1 were changed from to Deafness, autosomal recessive 112, MIM#618257

31 Dec 2019, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: BDP1 were set to

31 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: bdp1 has been classified as Red List (Low Evidence).

31 Dec 2019, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: BDP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: BDP1 was added gene: BDP1 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship Mode of inheritance for gene: BDP1 was set to Unknown