Genes associated with “LIS10”

Diagnostic yield calculator →
52 genes foundOpen Targets: lissencephaly 10
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
CEP85L →

centrosomal protein 85L

29
score
ClinGen: DefinitiveGTR ↑

Lissencephaly 10

Frequency
-
P/LP Variants
15
OT Score
0.78

Consider

9 genes
13LIS10

LISSENCEPHALY 10; LIS10

12SCN8A
Def

sodium voltage-gated channel alpha subunit 8

11ATP1A3
Def

ATPase Na+/K+ transporting subunit alpha 3

10CACNA1A

calcium voltage-gated channel subunit alpha1 A

10ARX
Def

aristaless related homeobox

10SHANK3
Def

SH3 and multiple ankyrin repeat domains 3

8CACNA1G
Def

calcium voltage-gated channel subunit alpha1 G

8DST
Def

dystonin

8CACNA1I

calcium voltage-gated channel subunit alpha1 I

Possible

21 genes — click to expand
7PLN
DefSF
7MAP1B
Str

microtubule associated protein 1B

6MECP2
Def

methyl-CpG binding protein 2

6KCNQ2
Def

potassium voltage-gated channel subfamily Q member 2

6RAI1
Def

retinoic acid induced 1

5CDK5R1

cyclin dependent kinase 5 regulatory subunit 1

5EPHA4

EPH receptor A4

4SCN11A
Def

sodium voltage-gated channel alpha subunit 11

4KCNA1
Def

potassium voltage-gated channel subfamily A member 1

4SCN1B
Def

sodium voltage-gated channel beta subunit 1

4MPZ
Def

myelin protein zero

4CHRNA4
Def

cholinergic receptor nicotinic alpha 4 subunit

4PRX
Def

periaxin

4UBE3A
Def

ubiquitin protein ligase E3A

4RYR2
DefSF

ryanodine receptor 2

4CHRNB2
Def

cholinergic receptor nicotinic beta 2 subunit

4HCN2
Def

hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2

4CSTB
Def

cystatin B

4PRRT2
Def

proline rich transmembrane protein 2

4HTRA2
Def

HtrA serine peptidase 2

4KCNT1
Def

potassium sodium-activated channel subfamily T member 1

Related phenotype searches

Intellectual disabilityGlobal developmental delaySpeech/language delayNeurodegenerationDevelopmental regressionSeizuresEpileptic encephalopathyStatus epilepticus

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