Molecular classification

Type

Locus

Location

Gene

References

OMIM entry

type I

WS1

2q35

PAX3

Tassabehji et al., 1992

193500

type IIA

WS2A

3p14.1-p12.3

MITF

Tassabehji et al., 1994

193510

type IIB

WS2B

1p21-p13.3

unknown

Am J Hum Genet 55 (suppl): A14, 1994

600193

type IIC

WS2C

8p23

unknown

Selicorni et al., 2002

606662

type IID

WS2D

8q11

SNAI2

Sanchez-Martin et al., 2002

608890

type III

WS3

2q35

PAX3

Hoth et al., 1993

148820

type IV

WS4

13q22

EDNRB

Attie et al., 1995

131244

type IV

WS4

20q13.2-q13.3

EDN3

Edery et al., 1996

131242

type IV

WS4

22q13

SOX10

Pingault et al., 1998

602229