Genes associated with “ventriculomegaly

1132 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

9 genes
1
KIDINS220

kinase D interacting substrate 220

34
score
ClinGen: DefinitiveGTR ↑

Ventriculomegaly

Frequency
100%
n=4
P/LP Variants
11
OT Score
0.03
2
FGFR2

fibroblast growth factor receptor 2

30
score
ClinGen: DefinitiveGTR ↑

Ventriculomegaly

Frequency
100%
n=1
P/LP Variants
21
OT Score
0.33
27
score
ClinGen: DefinitiveP2G #29OMIM CSGTR ↑

LOWE OCULOCEREBRORENAL SYNDROME; OCRL

Frequency
-
P/LP Variants
2
OT Score
-
26
score
ClinGen: DefinitiveP2G #23GTR ↑
Frequency
-
P/LP Variants
44
OT Score
-
26
score
ClinGen: DefinitiveP2G #1GTR ↑
Frequency
-
P/LP Variants
10
OT Score
-
6
OFD1

OFD1 centriole and centriolar satellite protein

23
score
ClinGen: DefinitiveP2G #38GTR ↑
Frequency
-
P/LP Variants
1
OT Score
0.27
21
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
4
OT Score
-
20
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
31
OT Score
-
20
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
13
OT Score
-

Consider

88 genes
19MED13L
Def
19NFIA
Def
19POMT1
Def

protein O-mannosyltransferase 1

17KANSL1
Def

Ventriculomegaly

17DLL1
Def
17HNRNPU
Def
16CCND2
Def
16CRB2
Def

Focal segmental glomerulosclerosis 9

16ARID1B
Def#13
16RAI1
Def#15
16PIK3R2
Def
15KDM6A
Def
15RPS6KA3
Def#3

Ventriculomegaly

14MKS1
Def

Dilated fourth ventricle

14KIF4A
Lim

kinesin family member 4A

14KIF7
#2

Ventriculomegaly

14PIK3R1
Def
13ARX
Def

aristaless related homeobox

13NSD1
Def#20

Ventriculomegaly

13THOC6
Def

VENTRICULOMEGALY AND ARTHROGRYPOSIS; VENARG

VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE; VMCKD

13DHCR7
Def#8

Dandy-Walker malformation

12COX20
Def
12ALDH7A1
Def

aldehyde dehydrogenase 7 family member A1

12CTNNB1
Def
12TMEM237
Def#5

Dandy-Walker malformation

12GFAP
Def

glial fibrillary acidic protein

12GPSM2
Def

Ventriculomegaly

12RAD21
Def
12FANCB
Def

Ventriculomegaly

12SMARCB1
Def#18

Dandy-Walker malformation

11OPHN1
Def
11ZBTB18
Def
11SDCCAG8
Def
11HDAC8
Def

Ventriculomegaly

10BUB1B
Def#6

Ventriculomegaly

10EZH2
Def

Ventriculomegaly

10ARL13B
Def
10ACTB
Def
10ZBTB20
Def

Ventriculomegaly

10SETD2
Def

SET domain containing 2, histone lysine methyltransferase

10TERT
Def
10BRCA1
DefSF
10POMT2
Def

Dandy-Walker malformation

10TUBA1A
Def
10CSF1R
Def
10ATP1A3
Def

Ventriculomegaly

10FLII
Mod
9PEX6
Def
9FKRP
Def

Dandy-Walker malformation

9FKTN
Def

Dandy-Walker malformation

9MEF2C
Def

Dilated fourth ventricle

Dandy-Walker malformation

9PDHA1
Def

Ventriculomegaly

9MAGEL2
Def

Ventriculomegaly

9CHD7
Def
9EBF3
Def
9ERMARD
Lim
9EXT1
Def
9NIPBL
Def
9ROBO1
Lim
9TCF4
Def
9ITPR1
Def

Ventriculomegaly

Ventriculomegaly

8AHI1
Def

Lateral ventricle dilatation

8PTEN
DefSF

phosphatase and tensin homolog

8FGFR1
Def

Dandy-Walker malformation

8RPL5
Def

ribosomal protein L5

Possible

945 genes — click to expand

Enlarged sylvian cistern

8TBCK
Def

Ventriculomegaly

Ventriculomegaly

7ERCC8
Def

Ventriculomegaly

7ACTN2
Def
7AGO2
Def
7ALB
Def
7ALPL
Def
7AP5Z1
Def
7ARL6
Def
7B9D1
Def
7CHMP2B
Def
7CNNM4
Def
7COA6
Def
7CPOX
Def
7CTSA
Def
7CYP4V2
Def
7DOCK7
Def
7ECHS1
Def
7EGLN1
Def
7F11
Def
7FLCN
Def
7GBE1
Def
7GNPAT
Def
7GPAA1
Def
7GRHL2
Def
7GRIA2
Def
7KCNH5
Def
7KCNQ3
Def
7KLKB1
Def
7KMT2B
Def
7LYST
Def
7MPC1
Def
7MTR
Def
7MYO15A
Def
7NDUFS6
Def
7PEX5
Def
7PLEC
Def
7POU3F3
Def
7PROS1
Def
7PUF60
Def
7RECQL4
Def
7RFX7
Def
7RYR2
DefSF
7SCARB2
Def
7SCN3A
Def
7SDHA
Def
7SLC6A3
Def
7SOX11
Def
7SPAG1
Def
7SYNE1
Def
7UROS
Def
7USP9X
Def
7VPS13B
Def
7ZIC1
Def
7MED12
Def

mediator complex subunit 12

7MT-ND1
Def

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1

7WDR37
Def

WD repeat domain 37

7PPP1CB
Def

Dandy-Walker malformation

7BCOR
Def

BCL6 corepressor

7ASXL3
Def

Lateral ventricle dilatation

Ventriculomegaly

7B9D2
Mod

Dandy-Walker malformation

7GCDH
Def

Lateral ventricle dilatation

6SIN3A
Def

Ventriculomegaly

6CHST14
Def

Ventriculomegaly

6EXO1
Ref

adducin 1

6AHDC1
Def

Ventriculomegaly

Ventriculomegaly

6CDK5
Mod
6CYC1
Mod
6FAT1
Str
6GALNT2
Str
6IFT57
Mod
6LRP12
Mod
6MAP1B
Str
6NSMCE2
Mod
6RNU4-2
Str
6TBCE
Mod
6WASHC5
Mod
6YWHAZ
Mod
6FIG4
Def

Ventriculomegaly

6IGF2
Def

Dandy-Walker malformation

6DPH1
Def

Dandy-Walker malformation

6AP1S2
Def

Ventriculomegaly

6COG4
Def

Ventriculomegaly

6EBP
Def

Ventriculomegaly

6ACTG1
Def

Ventriculomegaly

6ADNP
Def

Ventriculomegaly

5ZNF462
Def

Ventriculomegaly

5AP4E1
Def

Ventriculomegaly

5B4GAT1
Mod

Ventriculomegaly

5EIF2B4
Def

Ventriculomegaly

5POLR2A
Def

Ventriculomegaly

cyclin dependent kinase 8

divergent protein kinase domain 1A

5NAXE
Def

Ventriculomegaly

5ANGPT1
Lim
5ATPAF2
Lim
5CD96
Lim
5CFAP46
Lim
5COG2
Lim
5FBXO32
Lim
5FOXH1
Lim
5GFUS
Lim
5GRAP
Lim
5GREM2
Lim
5HAS2
Lim

?Hydrocephalus, autosomal dominant

5IRX4
Lim

KABUKI SYNDROME 2; KABUK2

5KLF10
Lim
5LIPT2
Lim

MICROPHTHALMIA, SYNDROMIC 1; MCOPS1

5MIEF2
Lim

INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE; MRXSC

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

5NDUFB9
Lim
5PDLIM3
Lim

SOTOS SYNDROME; SOTOS

TEEBI HYPERTELORISM SYNDROME 1; TBHS1

5TMEM65
Lim
5BGN
Str

Ventriculomegaly

5AMER1
Def

APC membrane recruitment protein 1

5EML1
Def

Lateral ventricle dilatation

5GRIA3
Def

Ventriculomegaly

5KIF5A
Def

Dandy-Walker malformation

5NDUFS8
Def

Ventriculomegaly

5OSTM1
Def

Ventriculomegaly

5PHGDH
Def

Ventriculomegaly

5SMAD2
Def

Lateral ventricle dilatation

5ZSWIM6
Def

Ventriculomegaly

Dandy-Walker malformation

Ventriculomegaly

4TBCD
Def

Ventriculomegaly

Lateral ventricle dilatation

4COG8
Def

Ventriculomegaly

4DNM1
Def

Ventriculomegaly

4GOSR2
Def

Ventriculomegaly

4MARS2
Def

Ventriculomegaly

4NAA10
Def

Ventriculomegaly

4PLG
Def

Dandy-Walker malformation

Ventriculomegaly

4TSFM
Def

Ventriculomegaly

4ADRA2B
Ref
4KMO
No
4MAX
DefSF

Ventriculomegaly

Ventriculomegaly

4RAB18
Mod

Ventriculomegaly

Ventriculomegaly

Dilated fourth ventricle

4ATP11A
Mod

Ventriculomegaly

Ventriculomegaly

4ASXL2
Def

Mild fetal ventriculomegaly

4LGI1
Def

Ventriculomegaly

4NAXD
Def

Ventriculomegaly

4NDUFS2
Def

Ventriculomegaly

4SATB1
Def

Lateral ventricle dilatation

4SPTBN1
Def

Ventriculomegaly

4TET3
Def

Ventriculomegaly

4TRPM3
Def

Ventriculomegaly

Ventriculomegaly

4FOXP3
Def

Ventriculomegaly

4YY1
Def

Lateral ventricle dilatation

3ZNF292
Def

Ventriculomegaly

Ventriculomegaly

3BBS2
Def

Bardet-Biedl syndrome 2

3TNNT2
DefSF

troponin T2, cardiac type

3TRPV4
Def

transient receptor potential cation channel subfamily V member 4

3COX16
Mod

Ventriculomegaly

3GLUL
Mod

Lateral ventricle dilatation

Ventriculomegaly

Lateral ventricle dilatation

3CHD3
Def

Ventriculomegaly

3CRPPA
Def

Ventriculomegaly

3FLVCR2
Def

Dandy-Walker malformation

Ventriculomegaly

3MYMK
Def

Ventriculomegaly

3OTUD6B
Def

Ventriculomegaly

3ROGDI
Def

Ventriculomegaly

3SLC6A9
Def

Ventriculomegaly

Dandy-Walker malformation

3TNNI3
DefSF

Ventriculomegaly

3VPS11
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.