. Author manuscript; available in PMC: 2012 Jul 1.

Published in final edited form as: Hum Genet. 2011 May 3;130(1):149–166. doi: 10.1007/s00439-011-0984-y

Table 6.

Phenotypes, copy number variants and numbers of characterized mutations for the genes encoding proteins that aVect platelet stability underlying thrombocytopenia

Gene symbol	MIM #	Protein level		CNV		HGMD® Public
Gene symbol	MIM #	Incr.	Defic.	Gain	Loss	Misnon	Reg	Indel	Del	Splicing	Total
CD59	107271	Yes	Yes			0	0	2	0	0	2
CYCS	123970	No	No			0	0	0	0	0	0
MASTL	608221	No	No		CL	1	0	0	0	0	1
WAS	301000	No	Yes			118	0	130	11	39	300
WASF2	605975	No	Mice		PL-1	0	0	0	0	0	0
Total						119	0	132	11	39	303

Details as given in Table 1