Waardenburg Syndrome - Classification

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

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