Genes associated with “ventriculomegaly

1886 genes foundHPO: VentriculomegalyOpen Targets: Ventriculomegaly
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

13 genes
1
KIDINS220

kinase D interacting substrate 220

29
score
ClinGen: DefinitiveGTR ↑

Spastic paraplegia, intellectual disability, nystagmus, and obesity

Frequency
-
P/LP Variants
11
OT Score
0.03
2
FGFR2

fibroblast growth factor receptor 2

28
score
ClinGen: DefinitiveGTR ↑

Ventriculomegaly

Frequency
-
P/LP Variants
20
OT Score
0.33
28
score
ClinGen: DefinitiveP2G #1GTR ↑

Ventriculomegaly

Frequency
20%
n=5
P/LP Variants
10
OT Score
-
27
score
ClinGen: DefinitiveP2G #29OMIM CSGTR ↑

LOWE OCULOCEREBRORENAL SYNDROME; OCRL

Frequency
-
P/LP Variants
2
OT Score
-
24
score
ClinGen: DefinitiveGTR ↑

Ventriculomegaly

Frequency
100%
n=2
P/LP Variants
4
OT Score
-
24
score
ClinGen: DefinitiveP2G #43GTR ↑

Ventriculomegaly

Frequency
38%
n=16
P/LP Variants
2
OT Score
-
23
score
ClinGen: RefutedP2G #23GTR ↑
Frequency
-
P/LP Variants
40
OT Score
-
8
OFD1

OFD1 centriole and centriolar satellite protein

23
score
ClinGen: DefinitiveP2G #38GTR ↑
Frequency
-
P/LP Variants
1
OT Score
0.27
9
POMT1

protein O-mannosyltransferase 1

22
score
ClinGen: DefinitiveP2G #48GTR ↑

Dandy-Walker malformation

Frequency
100%
n=2
P/LP Variants
1
OT Score
0.43
22GLI3
Def

Ventriculomegaly

22DLL1
Def

Ventriculomegaly

21AKT3
Def

Ventriculomegaly

20PPP2R1A
Def

Consider

96 genes
19OPHN1
Def

Ventriculomegaly

19MED13L
Def
19NFIA
Def
17HNRNPU
Def
17ARID1B
Def#13

Dandy-Walker malformation

16CCND2
Def

Ventriculomegaly

16CRB2
Def

Focal segmental glomerulosclerosis 9

16RAI1
Def#15
16PIK3R2
Def
15KDM6A
Def
15RPS6KA3
Def#3

Ventriculomegaly

14KIF4A
Lim

kinesin family member 4A

14KIF7
#2

Ventriculomegaly

13COX20
Def

Dilated fourth ventricle

13ARX
Def

aristaless related homeobox

13NSD1
Def#20

Ventriculomegaly

13THOC6
Def

VENTRICULOMEGALY AND ARTHROGRYPOSIS; VENARG

VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE; VMCKD

12ALDH7A1
Def

aldehyde dehydrogenase 7 family member A1

12CTNNB1
Def
12GFAP
Def

glial fibrillary acidic protein

12RAD21
Def
11ZBTB18
Def
11ROBO1
Lim

Ventriculomegaly

11SMARCA4
Def#7

Dandy-Walker malformation

11SDCCAG8
Def
11POMGNT2
Def

Ventriculomegaly

10BUB1B
Def#6

Ventriculomegaly

10KMT2D
Def

Lateral ventricle dilatation

10ATP6V1A
Lim

Ventriculomegaly

10ARL13B
Def

Ventriculomegaly

10MKS1
Def
10POLR2A
Def

Ventriculomegaly

10ACTB
Def
10NAXE
Def

Ventriculomegaly

10SETD2
Def

SET domain containing 2, histone lysine methyltransferase

10BUB1
Lim#9

Ventriculomegaly

10TERT
Def
10BRCA1
DefSF
10TUBA1A
Def
10MTOR
Def
10CSF1R
Def
10PIK3R1
Def
10FLII
Mod
9PEX6
Def
9EZH2
Def

Lateral ventricle dilatation

9TMEM67
Def

Dandy-Walker malformation

9ZIC1
Def

Lateral ventricle dilatation

9SMO
Def

Ventriculomegaly

9ASH1L
Def
9CAMTA1
Def
9CHD7
Def
9EBF3
Def
9ERMARD
Lim
9EXT1
Def
9MYCN
Def
9NIPBL
Def
9PBX1
Def
9POGZ
Def
9RUNX1
Def
9SF3B4
Def
9TCF4
Def

Lateral ventricle dilatation

Ventriculomegaly

9BMP4
Def

Ventriculomegaly

8AHI1
Def

Lateral ventricle dilatation

8BCOR
Def

Dandy-Walker malformation

8PTEN
DefSF

phosphatase and tensin homolog

8FGFR1
Def

Dandy-Walker malformation

8CDC42
Def

Ventriculomegaly

8ATP1A3
Def

ATPase Na+/K+ transporting subunit alpha 3

8MAGEL2
Def

MAGE family member L2

8RPL5
Def

ribosomal protein L5

8SMC1A
Def

Ventriculomegaly

Possible

1693 genes — click to expand
8GLB1
Def

Ventriculomegaly

8HRAS
DefSF

Ventriculomegaly

8PPP2CA
Def

Ventriculomegaly

Dandy-Walker malformation

Enlarged sylvian cistern

Ventriculomegaly

7THOC2
Def

Ventriculomegaly

7PNKP
Def

Ventriculomegaly

7ACTN2
Def
7ADAR
Def
7AGO2
Def
7ALB
Def
7ALPL
Def
7AP5Z1
Def
7ARL6
Def
7ATF6
Def
7ATP1A2
Def
7B9D1
Def
7CD247
Def
7CEP104
Def
7CHMP2B
Def
7CHRNB2
Def
7CNNM4
Def
7COA6
Def
7CPOX
Def
7CTSA
Def
7CTSK
Def
7CYP4V2
Def
7DARS2
Def
7DDR2
Def
7DOCK7
Def
7ECHS1
Def
7EGLN1
Def
7ESPN
Def
7F11
Def
7FASLG
Def
7FLAD1
Def
7FLCN
Def
7FMO3
Def
7GBA1
Def
7GBE1
Def
7GNPAT
Def
7GORAB
Def
7GPAA1
Def
7GRHL2
Def
7GRIA2
Def
7HJV
Def
7ITPR1
Def
7KCNJ10
Def
7KCNQ3
Def
7KLKB1
Def
7KMT2B
Def
7LMNA
DefSF
7LMX1A
Def
7LYST
Def
7MFN2
Def
7MPC1
Def
7MPZ
Def
7MSTO1
Def
7MTHFR
Def
7MTR
Def
7MUC1
Def
7MYO15A
Def
7MYOC
Def
7NDUFS2
Def
7NDUFS6
Def
7NMNAT1
Def
7NPHP4
Def
7NTRK1
Def
7PARK7
Def
7PEX11B
Def
7PEX14
Def
7PEX19
Def
7PEX5
Def
7PIK3CD
Def
7PKLR
Def
7PLEC
Def
7POU3F3
Def
7PROS1
Def
7PRPF3
Def
7PUF60
Def
7RBM8A
Def
7RECQL4
Def
7RERE
Def
7RFX5
Def
7RFX7
Def
7RIT1
Def
7RYR2
DefSF
7SCARB2
Def
7SCN3A
Def
7SDHA
Def
7SDHC
DefSF
7SLC6A3
Def
7SOX11
Def
7SPAG1
Def
7SYCE1
Def
7SYNE1
Def
7TARDBP
Def
7TARS2
Def
7TNR
Def
7TPM3
Def
7UROS
Def
7USP9X
Def
7VPS13B
Def
7WASHC5
Mod

Dandy-Walker malformation

7ZBTB20
Def
7MED12
Def

mediator complex subunit 12

7MT-ND1
Def

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1

7FBXL4
Def

Ventriculomegaly

7WDR37
Def

WD repeat domain 37

7FKTN
Def

Ventriculomegaly

7PPP1CB
Def

Dandy-Walker malformation

Ventriculomegaly

7B9D2
Mod

Dilated fourth ventricle

6EXO1
Ref

adducin 1

6OTUD5
Mod

Ventriculomegaly

6AHDC1
Def

Ventriculomegaly

6DYRK1A
Def

Ventriculomegaly

6HNRNPK
Def

Ventriculomegaly

Ventriculomegaly

6ATP5PO
Str
6CADM3
Mod
6CDK5
Mod
6CLCN6
Mod
6CYC1
Mod
6DPM3
Mod
6EDEM3
Str
6FAT1
Str
6GALNT2
Str
6GLUL
Mod
6IFT57
Mod
6KLHL20
Mod
6LRP12
Mod
6MAP1B
Str
6NSMCE2
Mod
6PPOX
Str
6PRDM16
Str
6RNU4-2
Str
6TBCE
Mod
6TP73
Str
6YWHAZ
Mod
6LMNB1
Def

Ventriculomegaly

6RNU12
Mod

Dilated fourth ventricle

Ventriculomegaly

Ventriculomegaly

6EBP
Def

Ventriculomegaly

Lateral ventricle dilatation

5GTPBP2
Def

Ventriculomegaly

5MTM1
Def

Dandy-Walker malformation

5FLNA
Def

filamin A

cyclin dependent kinase 8

divergent protein kinase domain 1A

5ANGPT1
Lim
5ASXL1
Def

Dandy-Walker malformation

5ATPAF2
Lim
5BCL9
Lim
5CASZ1
Lim
5CD96
Lim
5CFAP46
Lim
5CHD1L
Lim
5COG2
Lim
5FAM20B
Lim
5FBXO32
Lim
5FOXH1
Lim
5GFUS
Lim
5GRAP
Lim
5GREM2
Lim
5HAS2
Lim
5IL6R
Lim
5IRX4
Lim

KABUKI SYNDROME 2; KABUK2

5KCNE1
Lim
5KIF1B
Lim
5KLF10
Lim
5LIPT2
Lim

MICROPHTHALMIA, SYNDROMIC 1; MCOPS1

5MIEF2
Lim
5MRPL24
Lim
5MRPS14
Lim

INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, KUMAR TYPE; MRXSK

5MSL3
Def

Ventriculomegaly

5NDUFB9
Lim
5PDLIM3
Lim
5PIGC
Lim
5PIGM
Lim
5SETBP1
Def

Ventriculomegaly

5SHANK3
Def

Ventriculomegaly

SOTOS SYNDROME; SOTOS

TEEBI HYPERTELORISM SYNDROME 1; TBHS1

5TMEM65
Lim
5UQCRB
Lim
5VPS13D
Lim
5PMM2
Def

Dilated fourth ventricle

5AMER1
Def

APC membrane recruitment protein 1

5ASNS
Def

Dilated fourth ventricle

5COG8
Def

Dandy-Walker malformation

5CPT2
Def

Ventriculomegaly

5IFT140
Def

Ventriculomegaly

5PSAP
Def

Ventriculomegaly

5ZSWIM6
Def

Ventriculomegaly

5PSAT1
Def

Ventriculomegaly

Ventriculomegaly

4MAN2C1
Mod

Ventriculomegaly

Lateral ventricle dilatation

Ventriculomegaly

4GOSR2
Def

Ventriculomegaly

4LARGE1
Def

Dandy-Walker malformation

4PIGA
Def

Lateral ventricle dilatation

4PLG
Def

Ventriculomegaly

4TUBB2A
Def

Ventriculomegaly

Ventriculomegaly

Ventriculomegaly

4ADRA2B
Ref
4FMO5
Dis
4GJA5
Dis
4KCNE2
Dis
4KMO
No
4NPPA
No
4PRKAB2
Dis
4SEMA4A
Dis
4ERCC6
Def

Ventriculomegaly

4SCO2
Def

Ventriculomegaly

4CCDC22
Mod

Dandy-Walker malformation

4ALPK3
Def

Ventriculomegaly

4PGAP3
Def

Lateral ventricle dilatation

Ventriculomegaly

4KIF26A
Str

Ventriculomegaly

4ASXL2
Def

Mild fetal ventriculomegaly

4NAXD
Def

Ventriculomegaly

4KMT5B
Def

Ventriculomegaly

4TRPM3
Def

Ventriculomegaly

Dilated fourth ventricle

Ventriculomegaly

4FOXP3
Def

Ventriculomegaly

4YY1
Def

Lateral ventricle dilatation

3ZNF292
Def

Ventriculomegaly

3BBS2
Def

Bardet-Biedl syndrome 2

3TRPV4
Def

transient receptor potential cation channel subfamily V member 4

3TNNT2
DefSF

troponin T2, cardiac type

3COX16
Mod

Ventriculomegaly

3AIFM1
Def

apoptosis inducing factor mitochondria associated 1

3AP4B1
Def

Ventriculomegaly

3BLTP1
Def

Ventriculomegaly

3EIF2S3
Def

Ventriculomegaly

3IFT172
Def

Ventriculomegaly

3KCNQ1
DefSF

Dandy-Walker malformation

3MOCS1
Def

Ventriculomegaly

3MOCS2
Def

Ventriculomegaly

3MYMK
Def

Ventriculomegaly

3NANS
Def

Ventriculomegaly

3PAX6
Def

Ventriculomegaly

3PHGDH
Def

Dandy-Walker malformation

3PMPCA
Def

Dilated fourth ventricle

3QARS1
Def

Ventriculomegaly

3SLC6A9
Def

Ventriculomegaly

Dandy-Walker malformation

3UBE3B
Def

Ventriculomegaly

3VPS11
Def

Ventriculomegaly

3ZEB2
Def

Ventriculomegaly

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