Genes associated with “LISX1”

52 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
hover for details

Strong Candidates

1 gene
1
DCX →

doublecortin

32
score
ClinGen: DefinitiveGTR ↑

Lissencephaly, X-linked

Frequency
-
P/LP Variants
53
OT Score
0.86

Consider

5 genes
13LISX1

LISSENCEPHALY, X-LINKED, 1; LISX1

13WDFY3
Def

WD repeat and FYVE domain containing 3

11TUBA1A
Def

tubulin alpha 1a

10ARX
Def

aristaless related homeobox

10AUTS2
Def

activator of transcription and developmental regulator AUTS2

Possible

23 genes — click to expand
8RELN
Def

reelin

8DCC
Def

DCC netrin 1 receptor

8MAPK8IP3
Def

mitogen-activated protein kinase 8 interacting protein 3

7APC2
Str

APC regulator of Wnt signaling pathway 2

7PAFAH1B1

platelet activating factor acetylhydrolase 1b regulatory subunit 1

6DCLK2

DOUBLECORTIN-LIKE KINASE 2; DCLK2

6EMX2
Lim

empty spiracles homeobox 2

5LMNB2

lamin B2

5DAB1

DAB adaptor protein 1

5CDK5R1

cyclin dependent kinase 5 regulatory subunit 1

5DMRTA2

DMRT like family A2

5MAP3K12

mitogen-activated protein kinase kinase kinase 12

5ZNF503

zinc finger protein 503

5YWHAE

tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon

5CAMSAP1

calmodulin regulated spectrin associated protein 1

5FBXO41

F-box protein 41

4CAPN6
4DYNC1H1
Def

dynein cytoplasmic 1 heavy chain 1

4SLC1A2
Def

solute carrier family 1 member 2

4CSF1R
Def

colony stimulating factor 1 receptor

4KPTN
Def

kaptin, actin binding protein

3EML1
Def

EMAP like 1

3TRIO
Def

trio Rho guanine nucleotide exchange factor

Related phenotype searches

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