Deafness_IsolatedAndComplex
Gene: BDP1Comment 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
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
Gene: bdp1 has been classified as Red List (Low Evidence).
Phenotypes for gene: BDP1 were changed from to Deafness, autosomal recessive 112, MIM#618257
Publications for gene: BDP1 were set to
Gene: bdp1 has been classified as Red List (Low Evidence).
Mode of inheritance for gene: BDP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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