Waardenburg Syndrome
An Autosomal dominant mode(s) within the Eye disorders / Ear disorders category
Candidate Gene Information
An Autosomal dominant mode(s) within the Eye disorders / 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 | PAX3/5077 | paired box 3 | 2q36.1 | Chr2, NC_000002.12 (222199887..222298998, complement) |
99112 nt | 10 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | SOX10/6663 | SRY-box transcription factor 10 | 22q13.1 | Chr22, NC_000022.11 (37972312..37984555, complement) |
12244 nt | 4 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | MITF/4286 | melanocyte inducing transcription factor | 3p13 | Chr3, NC_000003.12 (69739464..69968332) |
228869 nt | 17 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | EDNRB/1910 | endothelin receptor type B | 13q22.3 | Chr13, NC_000013.11 (77895481..77975527, complement) |
80047 nt | 9 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 5 | EDN3/1908 | endothelin 3 | 20q13.32 | Chr20, NC_000020.11 (59300611..59325992) |
25382 nt | 6 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 6 | KITLG/4254 | KIT ligand | 12q21.33 | Chr12, NC_000012.12 (88492793..88580471, complement) |
87679 nt | 10 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: GTR MalaCards NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |