Classification
Subtypes of the syndrome are traceable to different genetic variations:
Type | OMIM | Gene | Locus | Also known as |
Type I, WS1 | 193500 | PAX3 | 2q35 | - |
Type IIa, WS2A (originally WS2) | 193510 | MITF | 3p14.1-p12.3 | - |
Type IIb, WS2B | 600193 | WS2B | 1p21-p13.3 | - |
Type IIc, WS2C | 606662 | WS2C | 8p23 | - |
Type IId, WS2D (very rare) | 608890 | SNAI2 | 8q11 | - |
Type III, WS3 | 148820 | PAX3 | 2q35 | Klein-Waardenburg syndrome |
Type IVa, WS4A | 277580 | EDNRB | 13q22 | |
Type IVb, WS4B | 613265 | EDN3 | 20q13 | |
Type IVc, WS4C | 613266 | SOX10 | 22q13 |
Read more about this topic: Waardenburg Syndrome
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