Genes associated with “LISX1

48 genes foundOpen Targets: lissencephaly type 1 due to doublecortin gene mutation
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
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Strong Candidates

1 gene
1
DCX

doublecortin

32
score
ClinGen: DefinitiveGTR ↑

Lissencephaly, X-linked

Frequency
-
P/LP Variants
53
OT Score
0.86

Consider

12 genes

LISSENCEPHALY, X-LINKED, 1; LISX1

11TUBA1A
Def

tubulin alpha 1a

10ARX
Def

aristaless related homeobox

calcium voltage-gated channel subunit alpha1 A

10NFIX
Def

nuclear factor I X

10PLP1
Def

proteolipid protein 1

10PMP22
Def

peripheral myelin protein 22

8RELN
Def

reelin

8EML1
Def

EMAP like 1

8MYO5A
Def

myosin VA

mitogen-activated protein kinase 8 interacting protein 3

8HTT
Def

huntingtin

Possible

23 genes — click to expand
8DCC
Def

DCC netrin 1 receptor

7ZNF423
Mod

zinc finger protein 423

7MAP1B
Str

microtubule associated protein 1B

platelet activating factor acetylhydrolase 1b regulatory subunit 1

DS cell adhesion molecule

DOUBLECORTIN-LIKE KINASE 2; DCLK2

6NR2F1
Def

nuclear receptor subfamily 2 group F member 1

6ZIC3
Def

Zic family zinc finger 3

6WDFY3
Def

WD repeat and FYVE domain containing 3

cyclin dependent kinase 5 regulatory subunit 1

EPH receptor A4

DAB adaptor protein 1

glutamate ionotropic receptor delta type subunit 2

DMRT like family A2

ATP/GTP binding carboxypeptidase 1

4TUBB4A
Def

tubulin beta 4A class IVa

4AKT3
Def

AKT serine/threonine kinase 3

4CSTB
Def

cystatin B

4ASPA
Def

aspartoacylase

4HYDIN
Def

HYDIN axonemal central pair apparatus protein

4TUBB2B
Def

tubulin beta 2B class IIb

4DST
Def

dystonin

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