Table 1. Genes Associated with Autosomal Dominant Nonsyndromic HPE

Gene SymbolChromosomal Locus% of Individuals with HPE and Mutations in This GeneSummary Tables of Sequence Variants (pdf)OMIM
Positive Family HistorySimplex Cases
SHH7q3630%-40%<5%Table 2600725
142945
ZIC213q325%2%Table 3603073
609637
SIX32p211.3%RareTable 4603714
157170
TGIF118p11.31.3%RareTable 5602630
142946
GLI22q14UnknownUnknown610829
165230
PTCH19q22.3UnknownUnknown601309
610828
DISP11q42RareRare607502
FGF810q24RareRare600483
FOXH18q24.3RareRare603621
NODAL10q22.1RareRare601265
TDGF1 (CRIPTO)3p23-p21RareRare187395
GAS19q21.33RareRare139185
DLL16q27RareRare606582
CDON11q24.2RareRare608707

From: Holoprosencephaly Overview

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Pagon RA, Adam MP, Ardinger HH, et al., editors.
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