Genes associated with “cortical visual impairment”

Diagnostic yield calculator →
229 genes foundHPO: Cerebral visual impairmentOpen Targets: Cerebral visual impairment2 PanelApp panels
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

10 genes
1
SCN3A →

sodium voltage-gated channel alpha subunit 3

31
score
ClinGen: DefinitivePanel: Green ↑P2G #11GTR ↑

Cerebral visual impairment

Frequency
17%
n=6
P/LP Variants
33
OT Score
0.07
2
28
score
ClinGen: ModeratePanel: Green ↑P2G #42GTR ↑

Cerebral visual impairment

Frequency
67%
n=12
P/LP Variants
3
OT Score
-
3
28
score
ClinGen: DefinitivePanel: Green ↑GTR ↑
Frequency
-
P/LP Variants
136
OT Score
-
4
26
score
ClinGen: DefinitivePanel: Green ↑GTR ↑
Frequency
-
P/LP Variants
34
OT Score
-
5
23
score
ClinGen: DefinitiveP2G #22GTR ↑

Cerebral visual impairment

Frequency
50%
n=2
P/LP Variants
22
OT Score
-
6
22
score
GTR ↑

Cerebral visual impairment

Frequency
50%
n=6
P/LP Variants
2
OT Score
-
7
22
score
ClinGen: DefinitivePanel: Green ↑GTR ↑
Frequency
-
P/LP Variants
22
OT Score
-
8
22
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
61
OT Score
-
9
22
score
ClinGen: DefinitiveP2G #18GTR ↑

Cerebral visual impairment

Frequency
-
P/LP Variants
23
OT Score
-
20SCN1A
Def#1

Cerebral visual impairment

Consider

55 genes
20ATN1
Def

Cerebral visual impairment

19GNB1
Def#15

Cerebral visual impairment

19FOXG1
Def
17TIMM8A
Def#2

Cerebral visual impairment

15POGZ
Def

Cerebral visual impairment

15SCN2A
Def#4

sodium voltage-gated channel alpha subunit 2

14ARHGAP35
13GRIK2
Def

Cerebral visual impairment

13CAVIPMR

CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION; CAVIPMR

13CDCBM12

CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 12; CDCBM12

13DEVLO

DEVELOPMENTAL DELAY, LANGUAGE IMPAIRMENT, AND OCULAR ABNORMALITIES; DEVLO

13KCNQ3
Def
13NEDGQS

NEURODEVELOPMENTAL DISORDER WITH GROWTH IMPAIRMENT, QUADRIPARESIS, AND POOR OR ABSENT SPEECH; NEDGQS

13NEDMVIC

NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CEREBRAL ATROPHY, AND VISUAL IMPAIRMENT; NEDMVIC

13NEDSIS

NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND WITH OR WITHOUT SEIZURES; NEDSIS

13NEDSVH

NEURODEVELOPMENTAL DISORDER WITH SPEECH OR VISUAL IMPAIRMENT AND BRAIN HYPOMYELINATION; NEDSVH

13NEDVIBA

NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA

13NEDVIL

NEURODEVELOPMENTAL DISORDER WITH INTELLECTUAL, VISUAL, AND LANGUAGE IMPAIRMENT; NEDVIL

13CACNA2D1
Dis

Cerebral visual impairment

13INPP4A

Cerebral visual impairment

13GRIN1
DefP:G#19

Cerebral visual impairment

12POLG
Lim#6

Cerebral visual impairment

12SCN9A
Ref#3

sodium voltage-gated channel alpha subunit 9

12NR2F1
Def

Cerebral visual impairment

11CACNA1E
Def

Cerebral visual impairment

11ST3GAL5
Def#5

Cerebral visual impairment

11TBC1D32
DefP:G

Cerebral visual impairment

10FDFT1

Cerebral visual impairment

10VAMP2

Cerebral visual impairment

10DIAPH1
Def

Cerebral visual impairment

10CEP85L
DefP:G

Cerebral visual impairment

10FKRP
DefP:G

fukutin related protein

10COL4A1
DefP:G

collagen type IV alpha 1 chain

10EML1
DefP:G

EMAP like 1

10POMGNT1
DefP:G

protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)

10SHANK3
Def#10

Cerebral visual impairment

10TBC1D20
10NEDD4L
DefP:G

Cerebral visual impairment

10TRA2B
Def

Cerebral visual impairment

10PIGA
Def

Cerebral visual impairment

9MED23
Mod
9MACF1
ModP:G

Cerebral visual impairment

9PIGS
Def

Cerebral visual impairment

9DOCK7
Def

Cerebral visual impairment

9TBCK
Def

Cerebral visual impairment

9MEF2C
Def
9MAP1B
StrP:G

microtubule associated protein 1B

9TELO2
Def

Cerebral visual impairment

9ASNS
Def#12

Cerebral visual impairment

9PPP2R1A
DefP:A

Cerebral visual impairment

8KAT6A
Def

Cerebral visual impairment

8CDKL5
Def

Cerebral visual impairment

8HECW2
Def

Cerebral visual impairment

8SON
Def

Cerebral visual impairment

8CACNA1D
Def#14

Cerebral visual impairment

Possible

114 genes — click to expand
8KIF5A
Def#20

Cerebral visual impairment

8PPP3CA
Def

Cerebral visual impairment

8PSMD12
Def#16

Cerebral visual impairment

8FOXRED1
Def

Cerebral visual impairment

8COL4A2
P:G

Cerebral visual impairment

8FGF12
Def

Cerebral visual impairment

8CACNA1B
Mod

Cerebral visual impairment

7PDSS2
Mod

Cerebral visual impairment

7AFG2A
Def

Cerebral visual impairment

7CHD3
Def

Cerebral visual impairment

7GNAI1
Def
7IARS2
Def
7PGAP3
Def
7PIGY
Lim

Cerebral visual impairment

7TGFB2
Def
7METTL23
Def

methyltransferase 23, arginine

7LMNB1
Def

Cerebral visual impairment

7TRAF7
Def

Cerebral visual impairment

7NADK2
Mod

Cerebral visual impairment

7TUBGCP2
P:G

Cerebral visual impairment

7NUS1
Def

Cerebral visual impairment

7AHDC1
Def

Cerebral visual impairment

6DPM1
Def

Cerebral visual impairment

6AMPD2

Cerebral visual impairment

6PIGT
Def

Cerebral visual impairment

6SLC25A1
Def

Cerebral visual impairment

6SCN8A
Def

sodium voltage-gated channel alpha subunit 8

6GABRB2
Def

Cerebral visual impairment

6KIF1A
Def

Cerebral visual impairment

6NARS2
Def

Cerebral visual impairment

6SCN5A
DefSF

sodium voltage-gated channel alpha subunit 5

6SCN11A
Def

sodium voltage-gated channel alpha subunit 11

6SCN4A
Def

sodium voltage-gated channel alpha subunit 4

6VPS11
Def

Cerebral visual impairment

6CLCN4
Def

Cerebral visual impairment

6RNF13

Cerebral visual impairment

6AFG2B
Lim

Cerebral visual impairment

6NAGA
Def

Cerebral visual impairment

6CCDC47

Cerebral visual impairment

6GABRB1
Lim

Cerebral visual impairment

6PGAP1

Cerebral visual impairment

6PITX2
Def

paired like homeodomain 2

6PAX2
Def

paired box 2

6COPB2

Cerebral visual impairment

6L1CAM
Def

L1 cell adhesion molecule

6PLP1
Def

proteolipid protein 1

6GLI3
Def

GLI family zinc finger 3

6NFIX
Def

nuclear factor I X

6RUNX1
Def

RUNX family transcription factor 1

6TRAPPC2L

Cerebral visual impairment

6FLVCR1
Def

Cerebral visual impairment

6CCT3
P:A

Cerebral visual impairment

6PIGP
Mod

Cerebral visual impairment

6COQ4
Def

Cerebral visual impairment

5FDXR
Def

Cerebral visual impairment

5GTPBP2
Def

Cerebral visual impairment

5CHMP1A
#13

Cerebral visual impairment

5FCSK
Lim

Cerebral visual impairment

5PARS2
Mod

Cerebral visual impairment

5TRAPPC12

Cerebral visual impairment

5ARHGDIA
Mod

Cerebral visual impairment

5EMC1
Mod

Cerebral visual impairment

5DEE23

DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 23; DEE23

5MC4DN7

MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7

5NEDHLS

NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS

5PRKD1
Lim
5WARS1
Lim
5COX6B1
Def

Cerebral visual impairment

5ITPR1
Def

Cerebral visual impairment

5PIGQ
Def

Cerebral visual impairment

5RERE
Def

Cerebral visual impairment

5SUOX
Def

Cerebral visual impairment

5MTHFS

Cerebral visual impairment

5TMEM63B

Cerebral visual impairment

4NEUROD2

Cerebral visual impairment

4BRAT1
Def

Cerebral visual impairment

4D2HGDH
Def

Cerebral visual impairment

4CAMSAP1

Cerebral visual impairment

4CERT1

Cerebral visual impairment

4PDE6B
Def

phosphodiesterase 6B

4ARHGAP5
4BPNT1
4C1ORF115
4CNOT2
4ENO2
4EPRS1
4LRRC23
4LYPLAL1
4MARK1
4MTARC1
4MTARC2
4SLC30A10
4KCNA1
Def

potassium voltage-gated channel subfamily A member 1

4PRPH2
Def

peripherin 2

4BMP4
Def

bone morphogenetic protein 4

4OPA1
Def

OPA1 mitochondrial dynamin like GTPase

4PPT1
Def

palmitoyl-protein thioesterase 1

4MYH10
Def

myosin heavy chain 10

4CLCN7
Def

Cl-/H+ antiporter 7

4FOXC1
Def

forkhead box C1

4BRAF
Def

Cerebral visual impairment

4COL18A1
Def

collagen type XVIII alpha 1 chain

4NMNAT1
Def

nicotinamide nucleotide adenylyltransferase 1

4SH3PXD2B
Def

SH3 and PX domains 2B

4TMEM237
Def

Cerebral visual impairment

4CC2D2A
Def

Cerebral visual impairment

4NDUFAF1
Mod

Cerebral visual impairment

4YIF1B
Def

Cerebral visual impairment

4KMT2B
Def

Cerebral visual impairment

4PET100
Def

Cerebral visual impairment

3POLG2

Cerebral visual impairment

3PIGU
Lim

Cerebral visual impairment

3SCN7A

sodium voltage-gated channel alpha subunit 7

3SCN10A
Dis

sodium voltage-gated channel alpha subunit 10

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.