Table 4

Known genes and candidate genes for HPE

LOCI and known HPE genes

Candidate genes:

236100

HPE1 21q22.3

Investigated or under investigation

157170

HPE2 2p21 SIX3

600909

LSS 21q22,3 HPE1

142945

HPE3 7q36 SHH

605194

CFC1 2q21.1

142946

HPE4 18p11.3 TGIF

181590

SIL 1p32

609637

HPE5 13q32 ZIC2

605189

DKK1 10q11.2

605934

HPE6 2q37.1–q37.3

Hypothetical

601309

HPE7 9q22.3 PTCH

602103

TMEM1 21q22.3

609408

HPE8 14q prox

600288

FOXA2 20p11

-

HPE9 20p13

607502

DISP1 1q42

-

HPE10 1q42-qter

609486

EAPP 14q13 HPE8

-

HPE11 5pter

609863

TECT1 12q24.1

-

HPE12 6q26-qter

603475

CHRD 3q27

600725

gene SHH 7q36

602991

NOG 17q22

602630

gene TGIF 18p11.3

600073

LPR2 2q24–q31

603073

gene ZIC2 13q32

601500

SMO 7q32.2

603714

gene SIX3 2p21

606178

HHIP 4q31.22

187395

gene TDGF1 3p23-p21

112262

BMP4 14q22.2

601309

gene PTCH 9q22

601265

NODAL 10q22.1

603621

gene FOXH1 8q24.3

601366

SMAD2/4 18q21

165230

gene GLI2 2q14

608707

CDO 11q23-q24

605049

TWSG1 18p11.3

Dubourg et al. Orphanet Journal of Rare Diseases 2007 2:8   doi:10.1186/1750-1172-2-8