Autosomal Recessive Nonsyndromic Hearing Loss 9(OTOF-related hearing loss)
An Autosomal recessive mode(s) within the Ear disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Ear disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | OTOF/9381 | otoferlin | 2p23.3 | Chr2, NC_000002.12 (26457203..26558756, complement) |
101554 nt | 48 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | SERPINB6/5269 | serpin family B member 6 | 6p25.2 | Chr6, NC_000006.12 (2948159..2971793, complement) |
23635 nt | 12 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | TSPEAR/54084 | thrombospondin type laminin G domain and EAR repeats | 21q22.3 | Chr21, NC_000021.9 (44497893..44711572, complement) |
213680 nt | 13 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | CABP2/51475 | calcium binding protein 2 | 11q13.2 | Chr11, NC_000011.10 (67518912..67523446, complement) |
4535 nt | 7 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information Highlighted rows indicate variants are reported from India | ||||||||
| Disorder Cross-References: Orphanet OMIM GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities