Genes associated with “ventriculomegaly

1886 genes foundHPO: Ventriculomegaly
Some sources returned errors (1)

openTargets: Error: OT search: 403

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
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Strong Candidates

13 genes
ClinGen: DefinitiveGTR ↑

Lateral ventricle dilatation

Frequency
100%
n=3
P/LP Variants
11
OT Score
-
27
score
ClinGen: DefinitiveP2G #29OMIM CSGTR ↑

LOWE OCULOCEREBRORENAL SYNDROME; OCRL

Frequency
-
P/LP Variants
2
OT Score
-
26
score
ClinGen: DefinitiveP2G #1GTR ↑
Frequency
-
P/LP Variants
11
OT Score
-
23
score
ClinGen: RefutedP2G #23GTR ↑
Frequency
-
P/LP Variants
39
OT Score
-
23
score
ClinGen: DefinitiveGTR ↑

Ventriculomegaly

Frequency
100%
n=8
P/LP Variants
1
OT Score
-
22
score
ClinGen: DefinitiveGTR ↑

Ventriculomegaly

Frequency
83%
n=12
P/LP Variants
4
OT Score
-
22
score
ClinGen: DefinitiveGTR ↑

Lateral ventricle dilatation

Frequency
100%
n=1
P/LP Variants
2
OT Score
-
22
score
ClinGen: DefinitiveP2G #49GTR ↑

Ventriculomegaly

Frequency
47%
n=15
P/LP Variants
1
OT Score
-
21
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
4
OT Score
-
21FGFR2
Def
20PPP2R1A
Def
20AKT3
Def
20SETD2
Def

Ventriculomegaly

Consider

87 genes
20CRB2
Def

Ventriculomegaly

19POGZ
Def

Ventriculomegaly

19USP9X
Def

Ventriculomegaly

19MED13L
Def
19NFIA
Def
17HNRNPU
Def
16KANSL1
Def
16ARID1B
Def#13
16RAI1
Def#15
16PIK3R2
Def
15RPS6KA3
Def#3

Ventriculomegaly

14CC2D2A
Def

Ventriculomegaly

13COX20
Def

Dilated fourth ventricle

13DLL1
Def
13THOC6
Def

VENTRICULOMEGALY AND ARTHROGRYPOSIS; VENARG

VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE; VMCKD

12DHCR24
Def

Ventriculomegaly

12CTNNB1
Def
12TMEM237
Def#5

Dandy-Walker malformation

12RAD21
Def
12FANCB
Def

Ventriculomegaly

11OPHN1
Def
11ZBTB18
Def
11SDCCAG8
Def
11NPHP3
Def#10

Dandy-Walker malformation

11HDAC8
Def

Ventriculomegaly

11NFIX
Def

Ventriculomegaly

10SON
Def

Ventriculomegaly

10GCDH
Def

Enlarged sylvian cistern

10ARL13B
Def
10ACTB
Def
10RASA1
Dis
10BUB1
Lim#9

Ventriculomegaly

10TERT
Def
10BRCA1
DefSF

Dilated fourth ventricle

10POMT1
Def

Dandy-Walker malformation

10MTOR
Def
10CSF1R
Def
10PIK3R1
Def
10FLII
Mod
9TMEM67
Def

Dilated fourth ventricle

9CORO1A
Def
9PEX6
Def
9PRRT2
Def
9SMO
Def

Ventriculomegaly

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

Ventriculomegaly

Ventriculomegaly

9FKRP
Def

Dandy-Walker malformation

8GLUL
Mod

Lateral ventricle dilatation

8CDC42
Def

Ventriculomegaly

8ARX
Def

Ventriculomegaly

Ventriculomegaly

8GBA1
Def

Ventriculomegaly

Possible

1739 genes — click to expand
8LIPT2
Lim

Lateral ventricle dilatation

8NDE1
Def

Ventriculomegaly

8APC2
Str

Ventriculomegaly

8GLB1
Def

Ventriculomegaly

7POMT2
Def

Ventriculomegaly

7KRAS
Def

Dandy-Walker malformation

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
7DDR2
Def
7DOCK7
Def
7ECHS1
Def
7EGLN1
Def
7ESPN
Def
7F11
Def
7FASLG
Def
7FLAD1
Def
7FLCN
Def
7FMO3
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
7NAXE
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
7POLR2A
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
7VPS13B
Def
7ZBTB20
Def
7ZIC1
Def

Ventriculomegaly

7CHD8
Def

Ventriculomegaly

7RAC1
Def

Dilated fourth ventricle

7ERCC3
Def

Ventriculomegaly

Dandy-Walker malformation

Ventriculomegaly

6EVC2
Def

Dandy-Walker malformation

6EXO1
Ref
6OTUD5
Mod

Ventriculomegaly

6RAP1B
Mod

Ventriculomegaly

6MKS1
Def

Dandy-Walker malformation

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
6GPR161
Str
6IFT57
Mod
6KLHL20
Mod
6LRP12
Mod
6MAP1B
Str
6NSMCE2
Mod
6PPOX
Str
6PRDM16
Str
6RNU4-2
Str
6TBCE
Mod

Dandy-Walker malformation

6TP73
Str
6WASHC5
Mod
6YWHAZ
Mod
6LMNB1
Def

Ventriculomegaly

6PCDH19
Def

Ventriculomegaly

6DHX30
Def

Ventriculomegaly

6TRA2B
Def

Ventriculomegaly

6NRAS
Def

Dandy-Walker malformation

Lateral ventricle dilatation

6TCF4
Def

Ventriculomegaly

Lateral ventricle dilatation

6AP4M1
Def

Ventriculomegaly

6GRIN1
Def

Ventriculomegaly

6ADNP
Def

Lateral ventricle dilatation

5DAG1
Def

Ventriculomegaly

5LARGE1
Def

Dandy-Walker malformation

5NUP188
Def

Ventriculomegaly

5PEX1
Def

Ventriculomegaly

5TAOK1
Def

Dilated third ventricle

5MTM1
Def

Dandy-Walker malformation

5ANGPT1
Lim
5AP1S2
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

?Hydrocephalus, autosomal dominant

5IL6R
Lim
5IRX4
Lim

KABUKI SYNDROME 2; KABUK2

5KCNE1
Lim
5KIF1B
Lim
5KIF4A
Lim
5KLF10
Lim

MICROPHTHALMIA, SYNDROMIC 1; MCOPS1

5MIEF2
Lim
5MRPL24
Lim
5MRPS14
Lim

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

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

5MSL3
Def

Ventriculomegaly

5NDUFB9
Lim

OXOGLUTARATE DEHYDROGENASE DEFICIENCY; OGDHD

5PDLIM3
Lim
5PIGC
Lim
5PIGM
Lim
5SHANK3
Def

Ventriculomegaly

SOTOS SYNDROME; SOTOS

TEEBI HYPERTELORISM SYNDROME 1; TBHS1

5TMEM65
Lim
5UQCRB
Lim
5VPS13D
Lim
5ZC4H2
Def

Ventriculomegaly

5BGN
Str

Ventriculomegaly

5COG8
Def

Dandy-Walker malformation

5CPT2
Def

Ventriculomegaly

5EML1
Def

Lateral ventricle dilatation

5ERCC4
Def

Ventriculomegaly

5GAN
Def

Lateral ventricle dilatation

5GRIA3
Def

Ventriculomegaly

5KIF5A
Def

Dandy-Walker malformation

5NDUFS8
Def

Ventriculomegaly

5PIGQ
Def

Ventriculomegaly

5TBK1
Def

Ventriculomegaly

5ERCC5
Def

Ventriculomegaly

5PSAT1
Def

Ventriculomegaly

Ventriculomegaly

4NADK2
Mod

Ventriculomegaly

4TRAF7
Def

Ventriculomegaly

4ERCC6
Def

Ventriculomegaly

4GTPBP2
Def

Dandy-Walker malformation

Lateral ventricle dilatation

4YARS1
Def

Ventriculomegaly

Ventriculomegaly

4NFIB
Def

Ventriculomegaly

4ADRA2B
Ref
4FMO5
Dis
4GJA5
Dis
4KCNE2
Dis
4KMO
No
4NPPA
No
4PRKAB2
Dis
4SEMA4A
Dis
4ATP1A1
Def

Ventriculomegaly

4MAX
DefSF

Ventriculomegaly

4MPDU1
Def

Ventriculomegaly

4PIGO
Def

Ventriculomegaly

4SCO2
Def

Ventriculomegaly

Ventriculomegaly

Ventriculomegaly

4CCDC22
Mod

Dandy-Walker malformation

4CEP120
Def

Ventriculomegaly

4EIF2B5
Def

Dilated third ventricle

4PGAP3
Def

Lateral ventricle dilatation

Ventriculomegaly

4ATP11A
Mod

Ventriculomegaly

Dandy-Walker malformation

4ASXL2
Def

Mild fetal ventriculomegaly

4KPTN
Def

Ventriculomegaly

4RRAS2
Def

Ventriculomegaly

4COG6
Def

Ventriculomegaly

Lateral ventricle dilatation

4YY1
Def

Lateral ventricle dilatation

3DNMT3A
Def

Ventriculomegaly

Ventriculomegaly

3DNA2
Mod

Ventriculomegaly

3COG1
Mod

Lateral ventricle dilatation

Ventriculomegaly

3B3GLCT
Def

Ventriculomegaly

3C2CD3
Def

Dandy-Walker malformation

3CRPPA
Def

Dandy-Walker malformation

3FLVCR2
Def

Dandy-Walker malformation

Ventriculomegaly

3MOCS2
Def

Ventriculomegaly

3OTUD6B
Def

Ventriculomegaly

3QARS1
Def

Ventriculomegaly

Ventriculomegaly

Ventriculomegaly

3ZEB2
Def

Ventriculomegaly

3ZMIZ1
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.