Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156636 | SCV000206357 | likely pathogenic | Rare genetic deafness | 2014-06-23 | criteria provided, single submitter | clinical testing | The deletion of exons 4 through 11 in the ESRRB gene has not been previously rep orted in individuals with hearing loss. The deletion of exons 4 through 11 detec ted in this individual encompasses the entire coding region of this gene and the refore it is expected to lead to an absent protein. Loss of function variants in ESRRB have been associated with autosomal recessive sensorineural hearing loss, however the exact mechanism of disease has not yet been established. In summary , this variant is likely to be pathogenic, though additional studies are require d to fully establish its clinical significance. The endpoints of this deletion c annot be determined and follow-up testing by chromosomal microarray may be able to assess the involvement of noncoding exons of ESRRB (exons 1-3) and/or neighbo ring genes. |