Genes associated with “cortical visual impairment”

216 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
GRIN2B →

glutamate ionotropic receptor NMDA type subunit 2B

29
score
ClinGen: DefinitivePanel: Green ↑GTR ↑
Frequency
-
P/LP Variants
140
OT Score
0.00
2
29
score
ClinGen: DefinitivePanel: Green ↑P2G #11GTR ↑

Cerebral visual impairment

Frequency
17%
n=6
P/LP Variants
32
OT Score
-
3
28
score
ClinGen: ModeratePanel: Green ↑P2G #42GTR ↑

Cerebral visual impairment

Frequency
67%
n=12
P/LP Variants
3
OT Score
-
4
GNB1 →

G protein subunit beta 1

27
score
ClinGen: DefinitiveP2G #15GTR ↑

Cerebral visual impairment

Frequency
23%
n=13
P/LP Variants
2
OT Score
0.42
5
26
score
ClinGen: DefinitivePanel: Green ↑GTR ↑
Frequency
-
P/LP Variants
40
OT Score
-
6
23
score
ClinGen: DefinitiveP2G #22GTR ↑

Cerebral visual impairment

Frequency
50%
n=2
P/LP Variants
22
OT Score
-
7
22
score
GTR ↑

Cerebral visual impairment

Frequency
50%
n=6
P/LP Variants
2
OT Score
-
8
22
score
ClinGen: DefinitivePanel: Green ↑GTR ↑
Frequency
-
P/LP Variants
19
OT Score
-
9
22
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
62
OT Score
-
22SPTBN4
Def#18

Cerebral visual impairment

Consider

46 genes
19FOXG1
Def
18SCN1A
Def#1

Cerebral visual impairment

17TIMM8A
Def#2

Cerebral visual impairment

17ATN1

Cerebral visual impairment

15POGZ
Def

Cerebral visual impairment

14KCNQ3
Def

potassium voltage-gated channel subfamily Q member 3

14ARHGAP35
14GRIN1
DefP:G#19

Cerebral visual impairment

13GRIK2
Def

Cerebral visual impairment

13MACF1
ModP:G

Cerebral visual impairment

13POLG
Lim#6

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

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

13CACNA2D1
Dis

Cerebral visual impairment

13INPP4A

Cerebral visual impairment

13NR2F1
Def

Cerebral visual impairment

11CACNA1E
Def

Cerebral visual impairment

11ST3GAL5
Def#5

Cerebral visual impairment

11DIAPH1
Def

Cerebral visual impairment

11VAMP2

Cerebral visual impairment

10DOCK7
Def

Cerebral visual impairment

10CEP85L
DefP:G

Cerebral visual impairment

10SHANK3
Def#10

Cerebral visual impairment

10NEDD4L
DefP:G

Cerebral visual impairment

10TRA2B
Def

Cerebral visual impairment

10PIGA
Def

Cerebral visual impairment

9MED23
Mod
9CDKL5
Def

Cerebral visual impairment

9PIGS
Def

Cerebral visual impairment

9ACTB
DefP:G

actin beta

9TBCK
Def

Cerebral visual impairment

9MEF2C
Def
9TELO2
Def

Cerebral visual impairment

9ASNS
Def#12

Cerebral visual impairment

9PPP2R1A
DefP:A

Cerebral visual impairment

8PDSS2
Mod

Cerebral visual impairment

8KAT6A
Def

Cerebral visual impairment

8HECW2
Def

Cerebral visual impairment

8SON
Def

Cerebral visual impairment

8CACNA1D
Def#14

Cerebral visual impairment

Possible

107 genes — click to expand
8FDFT1

Cerebral visual impairment

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

8TBC1D32
P:G

Cerebral visual impairment

8FGF12
Def

Cerebral visual impairment

8CACNA1B
Mod

Cerebral visual impairment

7TBC1D20
7KIF1A
Def

Cerebral visual impairment

7AFG2A
Def

Cerebral visual impairment

7VPS11
Def

Cerebral visual impairment

7CHD3
Def

Cerebral visual impairment

7PGAP1

Cerebral visual impairment

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

Cerebral visual impairment

7TGFB2
Def
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

6GABRB2
Def

Cerebral visual impairment

6NARS2
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

6GLUL
Mod
6GABRB1
Lim

Cerebral visual impairment

6COPB2

Cerebral visual impairment

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

5OTC
DefSF

ornithine transcarbamylase

5SCN8A
Def

sodium voltage-gated channel alpha subunit 8

5EMC1
Mod

Cerebral visual impairment

5DLG4
Def

discs large MAGUK scaffold protein 4

5DEE23

DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 23; DEE23

5DEE69

DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 69; DEE69

5MC4DN7

MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7

5NEDHLS

NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS

5PRKD1
Lim
5WARS1
Lim
5YIF1B
Def

Cerebral visual impairment

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

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

Cerebral visual impairment

4TMEM237
Def

Cerebral visual impairment

4CC2D2A
Def

Cerebral visual impairment

4NDUFAF1
Mod

Cerebral visual impairment

4KMT2B
Def

Cerebral visual impairment

4PET100
Def

Cerebral visual impairment

3POLG2

Cerebral visual impairment

3PIGU
Lim

Cerebral visual impairment

3MT-ND3
Def

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3

3SNAP25
Def

synaptosome associated protein 25

3CLN5
Def

CLN5 lysosomal BMP synthase

3P2RY12
Def

purinergic receptor P2Y12

3CYB5R3
Def

cytochrome b5 reductase 3

3GFAP
Def

glial fibrillary acidic protein

3NEFL
Def

neurofilament light chain

3PCSK9
DefSF

proprotein convertase subtilisin/kexin type 9

3PPARG
Def

peroxisome proliferator activated receptor gamma

3SALL1
Def

spalt like transcription factor 1

3SUMF1
Def

sulfatase modifying factor 1

3TREX1
Def

three prime repair exonuclease 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.