Genes associated with “ventriculomegaly”

2478 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

12 genes
1
KIDINS220 →

kinase D interacting substrate 220

33
score
ClinGen: DefinitiveGTR ↑

Lateral ventricle dilatation

Frequency
100%
n=3
P/LP Variants
11
OT Score
0.03
2
FGFR2 →

fibroblast growth factor receptor 2

27
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
14
OT Score
0.33
3
POMT1 →

protein O-mannosyltransferase 1

26
score
ClinGen: DefinitiveP2G #48GTR ↑

Dandy-Walker malformation

Frequency
100%
n=2
P/LP Variants
3
OT Score
0.43
26
score
ClinGen: DefinitiveP2G #1GTR ↑
Frequency
-
P/LP Variants
11
OT Score
-
5
SETD2 →

SET domain containing 2, histone lysine methyltransferase

25
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
26
OT Score
0.33
23
score
ClinGen: RefutedP2G #23GTR ↑
Frequency
-
P/LP Variants
43
OT Score
-
22
score
ClinGen: DefinitiveGTR ↑

Lateral ventricle dilatation

Frequency
100%
n=1
P/LP Variants
2
OT Score
-
22
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
5
OT Score
-
22
score
ClinGen: DefinitiveGTR ↑

Ventriculomegaly

Frequency
100%
n=1
P/LP Variants
36
OT Score
-
21CCND2
Def

Ventriculomegaly

20PPP2R1A
Def
20AKT3
Def

Consider

103 genes
20CRB2
Def

Ventriculomegaly

19POGZ
Def

Ventriculomegaly

19USP9X
Def

Ventriculomegaly

19MED13L
Def
17DLL1
Def
17HNRNPU
Def
17RAI1
Def#15

Ventriculomegaly

17OCRL
Def

Ventriculomegaly

16ZIC1
Def

Dandy-Walker malformation

16KANSL1
Def
16ARID1B
Def#13
16NPHP3
Def#10

Dandy-Walker malformation

16NFIX
Def

Ventriculomegaly

16PIK3R2
Def
15RPS6KA3
Def#3

Ventriculomegaly

14ARX
Def

Ventriculomegaly

14OFD1
Def

OFD1 centriole and centriolar satellite protein

14CC2D2A
Def

Ventriculomegaly

14KIF4A
Lim

kinesin family member 4A

14PTCH1
Def
13GLI3
Def
13NSD1
Def#20

Lateral ventricle dilatation

13THOC6
Def

VENTRICULOMEGALY AND ARTHROGRYPOSIS; VENARG

VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE; VMCKD

13KIF7
#2

kinesin family member 7

12COX20
Def
12ALDH7A1
Def

aldehyde dehydrogenase 7 family member A1

12FGFR1
Def
12CTNNB1
Def
12RAD21
Def
11ZBTB18
Def
11SDCCAG8
Def
10SON
Def

Ventriculomegaly

10GCDH
Def

Enlarged sylvian cistern

10ARL13B
Def
10ACTB
Def
10TERT
Def
10B4GALT1
Def
10BRCA1
DefSF

Dilated fourth ventricle

10TUBA1A
Def
10MTOR
Def
10AMER1
Def

APC membrane recruitment protein 1

10DOCK6
Def
10PIK3R1
Def
10SMARCE1
Def#19

Dandy-Walker malformation

10FLII
Mod
9TMEM67
Def

Dilated fourth ventricle

9CORO1A
Def
9PEX6
Def
9PRRT2
Def
9EZH2
Def

Lateral ventricle dilatation

9NFIB
Def

Ventriculomegaly

9SMO
Def

Ventriculomegaly

9ASH1L
Def
9CAMTA1
Def
9CDKN2A
Def
9CHD7
Def
9EBF3
Def
9ERMARD
Lim
9EXT1
Def
9GATA2
Def
9KAT6A
Def
9MYCN
Def
9NIPBL
Def
9PAX2
Def
9PBX1
Def
9ROBO1
Lim
9RUNX1
Def
9SF3B4
Def
9DARS2
Def

Ventriculomegaly

9PIGO
Def

Ventriculomegaly

9FKRP
Def

Dandy-Walker malformation

8BCOR
Def

Dandy-Walker malformation

8PTEN
DefSF

phosphatase and tensin homolog

8ATP1A3
Def

ATPase Na+/K+ transporting subunit alpha 3

8MAGEL2
Def

MAGE family member L2

8RPL5
Def

ribosomal protein L5

8GBA1
Def

Ventriculomegaly

8PLPBP
Def

Ventriculomegaly

Possible

2297 genes — click to expand
8LIPT2
Lim

Lateral ventricle dilatation

8NDE1
Def

Ventriculomegaly

Ventriculomegaly

8APC2
Str

Ventriculomegaly

7POMT2
Def

Ventriculomegaly

7AHI1
Def

Enlarged fossa interpeduncularis

7KRAS
Def

Dandy-Walker malformation

Ventriculomegaly

Ventriculomegaly

7GFAP
Def

glial fibrillary acidic protein

7ACAD9
Def
7ACTN2
Def
7ADAM9
Def
7ADAR
Def
7ADCY5
Def
7AGO2
Def
7ALB
Def
7ALPL
Def
7ANK1
Def
7AP5Z1
Def
7ARL6
Def
7ATF6
Def
7ATP1A2
Def
7B9D1
Def
7CASR
Def
7CD247
Def
7CEP104
Def
7CEP83
Def
7CHMP2B
Def
7CHRNB2
Def
7CLRN1
Def
7CNNM4
Def
7COA6
Def
7CPOX
Def
7CTSA
Def
7CTSK
Def
7CYP4V2
Def
7DDR2
Def
7DMRT1
Def
7DNAI1
Def
7DOCK7
Def
7DOCK8
Def
7DZIP1L
Def
7ECHS1
Def
7EGLN1
Def
7ERLIN1
Def
7ERLIN2
Def
7ESPN
Def
7F11
Def
7FANCG
Def
7FASLG
Def
7FLAD1
Def
7FLCN
Def
7FMO3
Def
7GBA2
Def
7GBE1
Def
7GLDC
Def
7GNE
Def
7GNPAT
Def
7GORAB
Def
7GP9
Def
7GPAA1
Def
7GRHL2
Def
7GRIA2
Def
7GYG1
Def
7HGD
Def
7HGSNAT
Def
7HJV
Def
7HPS3
Def
7HPS6
Def
7IFT122
Def
7IFT74
Def
7IKBKB
Def
7IL11RA
Def
7ILDR1
Def
7IQCB1
Def
7ITPR1
Def
7KCNJ10
Def
7KCNQ3
Def
7KCNV2
Def
7KLKB1
Def
7KMT2B
Def
7LMNA
DefSF
7LMX1A
Def
7LYST
Def
7MED12L
Def
7MFN2
Def
7MPC1
Def
7MPZ
Def
7MRPS22
Def
7MSTO1
Def
7MTHFR
Def
7MTR
Def
7MUC1
Def
7MYO15A
Def
7MYOC
Def
7NAXE
Def
7NDUFS2
Def
7NDUFS6
Def
7NFKB2
Def
7NMNAT1
Def
7NPHP4
Def
7NTRK1
Def
7P2RY12
Def
7PARK7
Def
7PAX5
Def
7PCCB
Def
7PDZD7
Def
7PEX11B
Def
7PEX14
Def
7PEX19
Def
7PEX5
Def
7PIK3CD
Def
7PKLR
Def
7PLEC
Def
7POLR2A
Def
7POU3F3
Def
7PROS1
Def
7PRPF3
Def
7PUF60
Def
7RAB7A
Def
7RBM8A
Def
7RECQL4
Def
7RERE
Def
7RFX3
Def
7RFX5
Def
7RFX7
Def
7RHO
Def
7RIT1
Def
7RMRP
Def
7RYR2
DefSF
7SCARB2
Def
7SCN3A
Def
7SDHA
Def
7SDHC
DefSF
7SLC6A3
Def
7SOX11
Def
7SPAG1
Def
7STAG1
Def
7SUFU
Def
7SYCE1
Def
7SYNE1
Def
7TARDBP
Def
7TARS2
Def
7TEK
Def
7TNR
Def
7TOPORS
Def
7TPM2
Def
7TPM3
Def
7TWNK
Def
7UBA5
Def
7UROS
Def
7VCP
Def
7VLDLR
Def
7VPS13B
Def
7WASHC5
Mod

Dandy-Walker malformation

7ZBTB20
Def
7ZFPM2
Def
7MED12
Def

mediator complex subunit 12

7MT-ND1
Def

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1

Ventriculomegaly

7CTCF
Def

Ventriculomegaly

7WDR37
Def

WD repeat domain 37

7CHD8
Def

Ventriculomegaly

7RAC1
Def

Dilated fourth ventricle

7ERCC3
Def

Ventriculomegaly

6EVC2
Def

Dandy-Walker malformation

6EXO1
Ref

adducin 1

6OTUD5
Mod

Ventriculomegaly

6RAP1B
Mod

Ventriculomegaly

6MKS1
Def

Dandy-Walker malformation

6HNRNPK
Def

Ventriculomegaly

6ATP5PO
Str
6CADM3
Mod
6CDK5
Mod
6CHUK
Mod
6CLCN6
Mod
6CYC1
Mod
6DPM3
Mod
6EDEM3
Str
6FAT1
Str
6FGF8
Mod
6GALNT2
Str
6GINS4
Mod
6GLUL
Mod
6GPR161
Str
6IFT57
Mod
6KLHL20
Mod
6LRP12
Mod
6MAP1B
Str
6MBD4
Mod
6MRAS
Mod
6MRPL3
Mod
6MTAP
Mod
6MYLK
Str
6NDUFB8
Mod
6NSMCE2
Mod
6PLS1
Mod
6PPOX
Str
6PRDM16
Str
6RNU4-2
Str
6RUSC2
Mod
6TBCE
Mod

Dandy-Walker malformation

6TP73
Str
6YWHAZ
Mod
6LMNB1
Def

Ventriculomegaly

6PCDH19
Def

Ventriculomegaly

6DHX30
Def

Ventriculomegaly

6NOTCH3
Def

Lateral ventricle dilatation

6TRA2B
Def

Ventriculomegaly

6NRAS
Def

Dandy-Walker malformation

Lateral ventricle dilatation

6RNU12
Mod

Dilated fourth ventricle

6TCF4
Def

Ventriculomegaly

Ventriculomegaly

6AP4M1
Def

Ventriculomegaly

6GRIN1
Def

Ventriculomegaly

exocyst complex component 3 like 2

Zic family zinc finger 4

5DAG1
Def

Ventriculomegaly

5LARGE1
Def

Dandy-Walker malformation

5NUP188
Def

Ventriculomegaly

5TAOK1
Def

Dilated third ventricle

5MTM1
Def

Dandy-Walker malformation

5FLNA
Def

filamin A

5TGFBR1
DefSF

transforming growth factor beta receptor 1

cyclin dependent kinase 8

divergent protein kinase domain 1A

5ANGPT1
Lim
5AP1S2
Def

Dandy-Walker malformation

5ATPAF2
Lim
5BCL9
Lim
5CASZ1
Lim
5CD96
Lim
5CFAP46
Lim
5CHD1L
Lim
5COG2
Lim
5COPG1
Lim
5CUL4B
Def

Ventriculomegaly

5EBP
Def

Dandy-Walker malformation

5FAM20B
Lim
5FBXO32
Lim
5FOXH1
Lim
5GFUS
Lim
5GRAP
Lim
5GREM2
Lim
5HAS2
Lim

?Hydrocephalus, autosomal dominant

5IL6R
Lim
5IRX4
Lim

KABUKI SYNDROME 2; KABUK2

Ventriculomegaly

5KCNE1
Lim
5KLF10
Lim
5MCM2
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
5RASA2
Lim
5SLC1A1
Lim

SOTOS SYNDROME; SOTOS

TEEBI HYPERTELORISM SYNDROME 1; TBHS1

5TMEM65
Lim
5UQCRB
Lim
5UROC1
Lim
5VPS13D
Lim
5WDR26
Def

Ventriculomegaly

5ZC4H2
Def

Ventriculomegaly

5PMM2
Def

Dilated fourth ventricle

5ASNS
Def

Dilated fourth ventricle

5CPT2
Def

Ventriculomegaly

5EML1
Def

Lateral ventricle dilatation

5ERCC4
Def

Ventriculomegaly

5GAN
Def

Lateral ventricle dilatation

5KIF5A
Def

Dandy-Walker malformation

5NDUFS8
Def

Ventriculomegaly

5PIGQ
Def

Ventriculomegaly

Lateral ventricle dilatation

5TBK1
Def

Ventriculomegaly

5ERCC5
Def

Ventriculomegaly

5PSAT1
Def

Ventriculomegaly

4HUWE1
Def

Ventriculomegaly

4NADK2
Mod

Ventriculomegaly

4TRAF7
Def

Ventriculomegaly

4ERCC6
Def

Ventriculomegaly

4GTPBP2
Def

Dandy-Walker malformation

Lateral ventricle dilatation

4TUBB2A
Def

Ventriculomegaly

4YARS1
Def

Ventriculomegaly

Ventriculomegaly

Ventriculomegaly

4ADRA2B
Ref
4FMO5
Dis
4GJA5
Dis
4KCNE2
Dis
4KIF1B
Dis
4KMO
No
4NPPA
No
4PLAT
Dis
4PRKAB2
Dis
4SEMA4A
Dis
4SLC9A9
Dis
4TOPBP1
No
4ATP1A1
Def

Ventriculomegaly

4MAX
DefSF

Ventriculomegaly

4MPDU1
Def

Ventriculomegaly

4SCO2
Def

Ventriculomegaly

Ventriculomegaly

4CCDC22
Mod

Dandy-Walker malformation

4CEP120
Def

Ventriculomegaly

4EIF2B5
Def

Dilated third ventricle

Ventriculomegaly

Dandy-Walker malformation

Lateral ventricle dilatation

4KMT5B
Def

Ventriculomegaly

4KPTN
Def

Ventriculomegaly

4RRAS2
Def

Ventriculomegaly

4COG6
Def

Ventriculomegaly

Lateral ventricle dilatation

4YY1
Def

Lateral ventricle dilatation

3DNA2
Mod

Ventriculomegaly

3BBS2
Def

Bardet-Biedl syndrome 2

3TRPV4
Def

transient receptor potential cation channel subfamily V member 4

3TNNT2
DefSF

troponin T2, cardiac type

3AIFM1
Def

apoptosis inducing factor mitochondria associated 1

3COG1
Mod

Lateral ventricle dilatation

Ventriculomegaly

3B3GLCT
Def

Ventriculomegaly

3C2CD3
Def

Dandy-Walker malformation

3CRPPA
Def

Dandy-Walker malformation

3CYFIP2
Def

Ventriculomegaly

3EIF2S3
Def

Ventriculomegaly

Ventriculomegaly

3KCNQ1
DefSF

Dandy-Walker malformation

3PMPCA
Def

Dilated fourth ventricle

3QARS1
Def

Ventriculomegaly

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.