Genes associated with “LISX2

67 genes foundOpen Targets: X-linked lissencephaly with abnormal genitalia
How are genes scored? (0–100 composite)
-5–15
ClinGen
0–15
HPO Freq
0–15
Open Targets
0–12
Phen2Gene
0–10
ClinVar
0–8
Constraint
0–8
Dosage
0–8
OMIM CS
0–8
PanelApp
0–5
OMIM
0–5
G2P
0–4
Breadth
Tiers:Strong Candidates (≥20)Consider (≥8)Possible (≥3)
Evidence dots:
HPOClinVarPhen2GeneOpen TargetsPanelApp
hover for details

Strong Candidates

1 gene
1
ARX

aristaless related homeobox

35
score
ClinGen: DefinitiveGTR ↑

Developmental and epileptic encephalopathy 1

Frequency
-
P/LP Variants
50
OT Score
0.81

Consider

6 genes
13DMD
Def

LISSENCEPHALY, X-LINKED, 2; LISX2

10POLA1
Mod
10GLI3
Def

GLI family zinc finger 3

Possible

35 genes — click to expand
6TCOF1
Def

treacle ribosome biogenesis factor 1

6ZIC3
Def

Zic family zinc finger 3

6MSX1
Def

msh homeobox 1

6GATA3
Def

GATA binding protein 3

6PITX2
Def

paired like homeodomain 2

6FOXC2
Def

forkhead box C2

6FGFR1
Def

fibroblast growth factor receptor 1

6PAX9
Def

paired box 9

4ALX1
Def

ALX homeobox 1

RPGRIP1 like

4FOXC1
Def

forkhead box C1

4FGFR2
Def

fibroblast growth factor receptor 2

4FGFR3
Def

fibroblast growth factor receptor 3

4NFIB
Def

nuclear factor I B

4EML1
Def

EMAP like 1

4HTT
Def

huntingtin

4MKS1
Def

MKS transition zone complex subunit 1

mitogen-activated protein kinase 8 interacting protein 3

4TUBA1A
Def

tubulin alpha 1a

4ARL6
Def

ARF like GTPase 6

4TUBB2B
Def

tubulin beta 2B class IIb

4CCDC39
Def

coiled-coil domain 39 molecular ruler complex subunit

4MYH10
Def

myosin heavy chain 10

Data aggregated from HPO/Monarch, ClinVar, OMIM (phenotypes + clinical synopsis), Open Targets, PanelApp, Phen2Gene, and Gene2Phenotype. Click a gene to view full details.