WS2B

WS2B is a putative gene associated with Waardenburg syndrome type 2. It has not yet been isolated from its locus of chromosome 1p21–1p13.3 since it was first reported in 1994.^[1]

Waardenburg syndrome, type 2B
Identifiers
Symbol	WS2B
NCBI gene	7488
HGNC	12794
OMIM	600193
Other data
Locus	Chr. 1 p21-1p13.3

History

This locus was first linked to Waardenburg syndrome in 1994, when the study that first identified mutations in MITF in patients with Waardenburg syndrome type 2 also found that some patients did not have any mutations in this region.^[1][2] A second 1994 study found a link to chromosome 1 in the locus 1p21–p13.3. This became known as type 2B of the condition, however it has not been documented since, and the gene responsible remains unknown.^[1][3]