Genes associated with “megalencephaly

529 genes foundHPO: MegalencephalyOpen Targets: megalencephaly
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

8 genes
1
PIK3CA

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha

31
score
ClinGen: RefutedP2G #4GTR ↑

Megalencephaly

Frequency
-
P/LP Variants
108
OT Score
0.34
2
AKT3

AKT serine/threonine kinase 3

30
score
ClinGen: DefinitiveP2G #6GTR ↑

Hemimegalencephaly

Frequency
100%
n=20
P/LP Variants
21
OT Score
0.07
3
FGFR3

fibroblast growth factor receptor 3

29
score
ClinGen: DefinitiveP2G #2GTR ↑

Megalencephaly

Frequency
25%
n=4
P/LP Variants
35
OT Score
0.07
26
score
ClinGen: DefinitiveP2G #13GTR ↑

Megalencephaly

Frequency
100%
n=12
P/LP Variants
15
OT Score
-
26
score
ClinGen: DefinitiveP2G #1GTR ↑
Frequency
-
P/LP Variants
185
OT Score
-
25
score
ClinGen: DefinitiveP2G #9GTR ↑

Megalencephaly

Frequency
25%
n=4
P/LP Variants
5
OT Score
-
7
PTEN

phosphatase and tensin homolog

25
score
ClinGen: DefinitiveACMG SFP2G #14GTR ↑

Hemimegalencephaly

Frequency
-
P/LP Variants
6
OT Score
0.39
8
TBC1D7

TBC1 domain family member 7

22
score
P2G #18GTR ↑

Megalencephaly

Frequency
-
P/LP Variants
3
OT Score
0.65

Consider

24 genes
19MYCN
Def

Megalencephaly

17HEPACAM
Def

Megalencephaly

17HRAS
DefSF#7

Hemimegalencephaly

17PIK3R2
Def#8

Megalencephaly

16PIK3R1
Def
16NRAS
Def#5

Hemimegalencephaly

15HERC1
#19

Megalencephaly

14STRADA
#17

Megalencephaly

13KPTN
Def
13MLC1
Def

Megalencephaly

13FGFR2
Def#3

Megalencephaly

12LRRC56
Mod
11SDCCAG8
Def
11PTCH1
Def

patched 1

9KATNIP
Def

katanin interacting protein

9CREBBP
Def
9FOXP1
Def
9PKD1
Def
9SCN2A
Def
9ZBTB18
Def
9CD19
Def

Possible

471 genes — click to expand
8L1CAM
Def

L1 cell adhesion molecule

8TSC2
SF#11

Hemimegalencephaly

7RAB39B
Def

Megalencephaly

7SMO
Def#16

Hemimegalencephaly

7ABCA3
Def
7ABCC6
Def
7ACTN2
Def
7ALG1
Def
7BCKDK
Def
7BRAF
Def
7CIITA
Def
7CLCN7
Def
7CLN3
Def
7COA6
Def
7COG7
Def
7COL7A1
Def
7CORO1A
Def
7EARS2
Def
7EGLN1
Def
7ERCC4
Def
7FUS
Def
7GFER
Def
7GNPAT
Def
7GNPTG
Def
7GRIN2A
Def
7HSD3B7
Def
7IFT140
Def
7IL21R
Def
7KMT5B
Def
7LAT
Def
7LYST
Def
7MEFV
Def
7MTR
Def
7MYH11
DefSF
7NDE1
Def
7NTHL1
Def
7OTOA
Def
7PALB2
DefSF
7PARN
Def
7PHKG2
Def
7PMM2
Def
7PRRT2
Def
7RIT1
Def
7ROGDI
Def
7RYR2
DefSF
7SCNN1G
Def
7SLX4
Def
7SOCS1
Def
7SPTBN1
Def
7SRCAP
Def
7STX1B
Def
7TELO2
Def
7THOC6
Def
7TRAF7
Def
7UMOD
Def
7USP7
Def
6GLI3
Def

GLI family zinc finger 3

kinesin family member 6

6ABAT
Mod
6CLDN9
Mod
6COQ7
Str
6COX6A2
Mod
6GALNT2
Str
6GLIS2
Mod
6LITAF
Mod
6MRPS34
Mod
6RPL3L
Mod
6TBCE
Mod
6TUFM
Mod
6UQCRC2
Mod
6VKORC1
Mod
6COL2A1
Def

collagen type II alpha 1 chain

6PITX2
Def

paired like homeodomain 2

6NFIX
Def

nuclear factor I X

T-box transcription factor 6

6KRAS
Def#12

Hemimegalencephaly

6EIF2B5
Def

Megalencephaly

6FGF9
Def

fibroblast growth factor 9

5DEPDC5
Def#20

Hemimegalencephaly

5CRADD
Def

Megalencephaly

5ABCC1
Lim
5CCNF
Lim
5COG2
Lim
5CRYM
Lim
5CTF1
Lim
5DNASE1
Lim
5GREM2
Lim

MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE; MGCPH

MEGALENCEPHALY-POLYDACTYLY SYNDROME; MPAPA

MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1; MPPH1

MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2; MPPH2

MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3; MPPH3

5RNF40
Lim

TEEBI HYPERTELORISM SYNDROME 1; TBHS1

5PEX6
Def

peroxisomal biogenesis factor 6

4MYH10
Def

myosin heavy chain 10

4FOXC1
Def

forkhead box C1

4TUBB2B
Def

tubulin beta 2B class IIb

heterogeneous nuclear ribonucleoprotein H2

4EXO1
Ref
4KMO
No
4FKRP
Def

fukutin related protein

4HYDIN
Def

HYDIN axonemal central pair apparatus protein

4EML1
Def

EMAP like 1

4ALX1
Def

ALX homeobox 1

4CCDC39
Def

coiled-coil domain 39 molecular ruler complex subunit

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