Genes associated with “VMCKD”

30 genes foundOpen Targets: ventriculomegaly-cystic kidney disease
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

1 gene
1
CRB2 →

crumbs cell polarity complex component 2

29
score
ClinGen: DefinitiveGTR ↑

Focal segmental glomerulosclerosis 9

Frequency
-
P/LP Variants
13
OT Score
0.81

Consider

5 genes
13VMCKD

VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE; VMCKD

11MYH10
Def

myosin heavy chain 10

10PKD1
Def

polycystin 1, transient receptor potential channel interacting

9GPC3
Def

glypican 3

9QRICH1
Def

glutamine rich 1

Possible

16 genes — click to expand
8DNM2
Def

dynamin 2

6PKD2
Def

polycystin 2, transient receptor potential cation channel

5CRIM1

cysteine rich transmembrane BMP regulator 1

5DOCK1

dedicator of cytokinesis 1

5PLXND1

plexin D1

4SLIT2

slit guidance ligand 2

4PTK7

protein tyrosine kinase 7 (inactive)

4SLIT3

slit guidance ligand 3

4CC2D2A
Def

coiled-coil and C2 domain containing 2A

4CXCR4
Def

C-X-C motif chemokine receptor 4

4EPHB4
Def

EPH receptor B4

3COL18A1
Def

collagen type XVIII alpha 1 chain

3PCNT
Def

pericentrin

3IFT140
Def

intraflagellar transport 140

3UMOD
Def

uromodulin

3CEP290
Def

centrosomal protein 290

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