Genes associated with “MPPH3”

34 genes foundOpen Targets: megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 312 ClinVar P/LP variants
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
CCND2 →

cyclin D2

33
score
ClinGen: DefinitiveGTR ↑

Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3

Frequency
-
P/LP Variants
12
OT Score
0.81

Consider

6 genes
13MPPH3

MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3; MPPH3

11MYH10
Def

myosin heavy chain 10

11TUBA1A
Def

tubulin alpha 1a

10L1CAM
Def

L1 cell adhesion molecule

9COL1A1
Def

collagen type I alpha 1 chain

9SMARCB1
Def

SWI/SNF related BAF chromatin remodeling complex subunit B1

Possible

15 genes — click to expand
8HOXA13
Def

homeobox A13

7EML1
Def

EMAP like 1

7GLI3

GLI family zinc finger 3

6MYO9A
Lim

myosin IXA

5NFIA
Def

nuclear factor I A

5EN1

engrailed homeobox 1

5RND3

Rho family GTPase 3

5ZBTB16

zinc finger and BTB domain containing 16

4DHCR7
Def

7-dehydrocholesterol reductase

4SDCCAG8
Def

SHH signaling and ciliogenesis regulator SDCCAG8

4PHGDH
Def

phosphoglycerate dehydrogenase

3KATNIP
Def

katanin interacting protein

3LRP4
Def

LDL receptor related protein 4

3COL18A1
Def

collagen type XVIII alpha 1 chain

3DNAI1
Def

dynein axonemal intermediate chain 1

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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.