Genes associated with “HDCPH1

44 genes foundOpen Targets: craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome
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

Consider

7 genes
12SCN8A
Def

sodium voltage-gated channel alpha subunit 8

11MYH10
Def

myosin heavy chain 10

10FGFR1
Def

fibroblast growth factor receptor 1

10L1CAM
Def

L1 cell adhesion molecule

10NFIA
Def

nuclear factor I A

10ERF
Def

ETS2 repressor factor

10SMARCB1
Def

SWI/SNF related BAF chromatin remodeling complex subunit B1

Possible

19 genes — click to expand
8FGFR2
Def

fibroblast growth factor receptor 2

heterogeneous nuclear ribonucleoprotein H2

GLI family zinc finger 2

6TWIST1
Def

twist family bHLH transcription factor 1

6MYO9A
Lim

myosin IXA

?Hydrocephalus, autosomal dominant

Rho family GTPase 3

ataxin 1 like

musashi RNA binding protein 1

4MBOAT7
Def

membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7

4DRC4
Def

dynein regulatory complex subunit 4

4KATNIP
Def

katanin interacting protein

4DNAI1
Def

dynein axonemal intermediate chain 1

4B3GLCT
Def

beta 3-glucosyltransferase

4CCDC39
Def

coiled-coil domain 39 molecular ruler complex subunit

4DRC1
Def

dynein regulatory complex subunit 1

4FOXJ1
Def

forkhead box J1

protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)

3FKRP
Def

fukutin related protein

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