Skip to main content

Table 1 Variants identified with the WGS analysis while running a de novo dominant model using xbrowse

From: Temple-Baraitser Syndrome and Zimmermann-Laband Syndrome: one clinical entity?

Gene

Position

Function

Software prediction

KCNH1

chr1:211093321

Missense

Polyphen: probably damaging

C > T

c.1042G > A

Sift: damaging

p.(Gly348Arg)

Mutation taster: disease causing

Fathmm: damaging

STK36

chr2:219558050

Missense

Polyphen: possibly damaging

T > C

c.2131 T > C

Sift: damaging

p.(Cys711Arg)

Mutation taster: disease causing

Fathmm: tolerated

ZNF517

chr8:146033027

Missense

Mutation taster:disease causing

C > A

c.726C > A

p.(Phe242Leu)