Genes associated with “polymicrogyria”

Diagnostic yield calculator →
676 genes foundHPO: PolymicrogyriaOpen Targets: polymicrogyria
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

15 genes
1
ADGRG1 →

adhesion G protein-coupled receptor G1

48
score
ClinGen: DefinitiveGTR ↑

Frontal polymicrogyria

Frequency
100%
n=2
P/LP Variants
52
OT Score
0.85
2
TUBB2B →

tubulin beta 2B class IIb

40
score
ClinGen: DefinitiveP2G #42GTR ↑

Polymicrogyria

Frequency
100%
n=5
P/LP Variants
4
OT Score
0.82
3
RTTN →

rotatin

33
score
ClinGen: DefinitiveGTR ↑

Polymicrogyria

Frequency
44%
n=9
P/LP Variants
34
OT Score
0.68
4
GRIN1 →

glutamate ionotropic receptor NMDA type subunit 1

31
score
ClinGen: DefinitiveGTR ↑

Polymicrogyria

Frequency
-
P/LP Variants
96
OT Score
0.40
5
FIG4 →

FIG4 phosphoinositide 5-phosphatase

31
score
ClinGen: DefinitiveGTR ↑

Polymicrogyria

Frequency
100%
n=3
P/LP Variants
4
OT Score
0.72
6
PI4KA →

phosphatidylinositol 4-kinase alpha

30
score
P2G #43GTR ↑

Perisylvian polymicrogyria

Frequency
100%
n=3
P/LP Variants
38
OT Score
0.77
7
TUBA1A →

tubulin alpha 1a

27
score
ClinGen: DefinitiveP2G #14GTR ↑

Polymicrogyria

Frequency
-
P/LP Variants
1
OT Score
0.48
8
27
score
ClinGen: RefutedP2G #4GTR ↑

Polymicrogyria

Frequency
-
P/LP Variants
35
OT Score
-
9
27
score
ClinGen: DefinitiveGTR ↑

Polymicrogyria

Frequency
100%
n=12
P/LP Variants
6
OT Score
-
27AKT3
Def#18

Polymicrogyria

25ATP1A2
Def

Polymicrogyria

23PIK3R2
Def

Polymicrogyria

23SUFU
Def

Polymicrogyria

21ATP1A3
Def

Perisylvian polymicrogyria

21COL3A1
DefSF

Polymicrogyria

Consider

59 genes
20MN1
Def

Polymicrogyria

19PTEN
DefSF#13
18SNAP29
#9

Polymicrogyria

17EHMT1
Def

euchromatic histone lysine methyltransferase 1

17SMARCE1
Def
17LAMC3
Dis

Polymicrogyria

17TCP1

Bilateral perisylvian polymicrogyria

17NSDHL
Mod#3

Polymicrogyria

16SCN3A
Def

Polymicrogyria

15RECQL4
Def#2

Polymicrogyria

15GPSM2
Def#7

Polymicrogyria

14PSMC3

proteasome 26S subunit, ATPase 3

14NUS1
Def

NUS1 dehydrodolichyl diphosphate synthase subunit

13POMGNT1
Def

Polymicrogyria

13TUBB3
Def

Frontal polymicrogyria

13FARIMPD

FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES; FARIMPD

13FGFR3
Def
13IDDPMGS

INTELLECTUAL DEVELOPMENTAL DISORDER WITH POLYMICROGYRIA AND SEIZURES; IDDPMGS

13NF2
DefSF
13PMGEDSV

POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME; PMGEDSV

13WDR62
Def

Polymicrogyria

12B3GALNT2
Def

Polymicrogyria

12WFS1
Def

wolframin ER transmembrane glycoprotein

12RELN
Def

reelin

11MAPK8IP3
Def

mitogen-activated protein kinase 8 interacting protein 3

11ARX
Def

aristaless related homeobox

11EML1
Def

Polymicrogyria

11CPT2
Def

Polymicrogyria

11DDX23
Mod

DEAD-box helicase 23

11TRRAP
Def

Polymicrogyria

11SHMT2
Lim

Perisylvian polymicrogyria

11LAMA2
Def

laminin subunit alpha 2

10DOCK6
Def#6

Polymicrogyria

10PEX5
Def
10DHCR24
Def
10COL4A2

Polymicrogyria

10DYNC1H1
Def

Frontal polymicrogyria

10HSD17B4
Def

Polymicrogyria

9PAH
Def

phenylalanine hydroxylase

9SDCCAG8
Def
9KLHL15

Polymicrogyria

9ST3GAL3
Mod
9BMPR1A
DefSF
9DMD
Def
9IL1RAPL1
Def
9NFIA
Def
9SCN2A
Def
9SLC2A1
Def
9OFD1
Def

OFD1 centriole and centriolar satellite protein

9SETD5
Def

SET domain containing 5

9PIK3R1
Def
9KIFBP
Def

Polymicrogyria

9ATP6V0A2
Def#11

Polymicrogyria

9PEX1
Def

Polymicrogyria

9KIF26A
Str

Polymicrogyria

8MAP1B
Str

Polymicrogyria

8AHI1
Def

Frontal polymicrogyria

8DAG1
Def

Polymicrogyria

8KIF5C
Mod

Polymicrogyria

Possible

567 genes — click to expand
8ATN1
Def

Polymicrogyria

8RAB3GAP2
Def

Polymicrogyria

8SF3B4
Def

Polymicrogyria

8WT1
DefSF

Polymicrogyria

8CUL4B
Def

Polymicrogyria

8MECP2
Def

Polymicrogyria

8IBA57
Def

Polymicrogyria

8COL18A1
Def

Polymicrogyria

8RAB3GAP1
Def

Perisylvian polymicrogyria

7PEX26
Def

Polymicrogyria

7RAB18
Mod

Polymicrogyria

7PEX14
Def

Polymicrogyria

7TCTN2
Def

Polymicrogyria

7MBOAT7
Def

Polymicrogyria

7SMO
Def

Polymicrogyria

7ARHGAP31
#5

Polymicrogyria

7ACTN2
Def
7AGO1
Def
7AP4M1
Def
7BSND
Def
7CDC45
Def
7COA6
Def
7COA7
Def
7COL5A2
Def
7CTPS1
Def
7DCC
Def
7EGLN1
Def
7EIF2B3
Def
7EIF2S3
Def
7FOXE3
Def
7GJB3
Def
7GLS
Def
7GNPAT
Def
7GP1BB
Def
7HECW2
Def
7HIBCH
Def
7KCNQ4
Def
7LYST
Def
7LZTR1
DefSF
7MARS2
Def
7MMACHC
Def
7MPL
Def
7MTR
Def
7MUTYH
DefSF
7MYSM1
Def
7PCSK9
DefSF
7PDK3
Def
7PPT1
Def
7RYR2
DefSF
7SCP2
Def
7SERPIND1
Def
7SLC25A1
Def
7SLC40A1
Def
7SLC6A9
Def
7STAT1
Def
7STIL
Def
7SZT2
Def
7TPRN
Def
7TRIT1
Def
7TUBB4B
Def
7UROD
Def
7USP7
Def
7ZMPSTE24
Def
7PCDH19
Def

protocadherin 19

7RAC1
Def

Polymicrogyria

7PGAP1
7GNB1
Def#17

Polymicrogyria

7GPHN
Mod

Polymicrogyria

7DISC1
7FMN2
6FKTN
Def#15

Polymicrogyria

6BMPER
#8

Polymicrogyria

6DAB1

DAB adaptor protein 1

6DHX37

Polymicrogyria

6TSPAN1
6POMT1
Def#20

Polymicrogyria

6POMT2
Def#19

Polymicrogyria

6ARHGEF9
Def

Frontal polymicrogyria

6ITGAV

Bilateral polymicrogyria

6MTOR
Def

Perisylvian polymicrogyria

6SRD5A3
Def

Polymicrogyria

6CPLANE1
Def

Polymicrogyria

6DEPDC5
Def

Polymicrogyria

6CACNA1B
Mod
6GALNT2
Str
6HPDL
Mod
6LAMB1
Mod
6MACF1
Mod
6NR0B1
6PARS2
Mod
6POLA1
Mod
6TBCE
Mod
6ZFX
Str
6RRAGC

Polymicrogyria

6PAX6
Def

Polymicrogyria

6FKRP
Def

Polymicrogyria

6PEX2
Def

Polymicrogyria

6PEX13
Def

Polymicrogyria

6C2CD3
Def

Polymicrogyria

6ARMC9
Def

Polymicrogyria

6CRPPA
Def

Polymicrogyria

6LARGE1
Def

Polymicrogyria

6SIN3A
Def

Bilateral polymicrogyria

6CCDC88A

Polymicrogyria

5PAFAH1B1

platelet activating factor acetylhydrolase 1b regulatory subunit 1

5TBC1D20

Perisylvian polymicrogyria

5LAMA5
Def

laminin subunit alpha 5

5RNU4ATAC
Def

Polymicrogyria

5CDCBM1

CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1; CDCBM1

5CFAP57
Lim
5COG2
Lim
5COL9A2
Lim
5DNAH7
Lim
5GREM2
Lim
5IRF2BP2
Lim
5KIF4A
Lim
5MAST2
Lim
5MDDGA4

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4; MDDGA4

5MPPH1

MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1; MPPH1

5MPPH2

MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2; MPPH2

5MPPH3

MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3; MPPH3

5MYCN
Def

Bilateral perisylvian polymicrogyria

5PTCH2
Lim
5SAT1
Lim
5TUFM
Mod

Polymicrogyria

5UQCRH
Lim
5XLID100

INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 100; XLID100

5ENTPD1
Def

ectonucleoside triphosphate diphosphohydrolase 1

5FBXL4
Def

Polymicrogyria

5MICU1
Def

Perisylvian polymicrogyria

5ERCC1

Polymicrogyria

4KATNIP
Def

katanin interacting protein

4GM2A
Def

ganglioside GM2 activator

4MYH10
Def

myosin heavy chain 10

4TP53RK

Polymicrogyria

4KIAA0586

Polymicrogyria

4MAN2C1
Mod

Polymicrogyria

4A3GALT2
4ACOT11
4ACOT9
4ADPRS
4AGBL4
4AGBL4-IT1
4AGO3
4AGO4
4AIFM3
4AIRIM
4AKIRIN1
4AKR1A1
4ANAPC2
4ANKAR
4ANKRD44
4ARID4B
4ARMH1
4ARRDC1
4ARV1
4ARVCF
4ASNSD1
4ATP6V0B
4ATPAF1
4B4GALT2
4BECN2
4BEND5
4BEST4
4BMP8A
4BMP8B
4BTBD19
4BTF3L4
4C1ORF122
4C1ORF185
4C1ORF198
4C1ORF210
4C1ORF216
4C1ORF50
4C1ORF87
4C1ORF94
4C22ORF39
4C2ORF66
4C2ORF88
4C8A
4C8B
4CALCRL
4CAP1
4CAPN9
4CAVIN2
4CC2D1B
4CCDC150
4CCDC163
4CCDC17
4CCDC188
4CCDC24
4CCDC30
4CDC20
4CDC20-DT
4CDCA8
4CDCP2
4CDKN2C
4CEP170
4CFAP144
4CHRM3
4CIMAP2
4CIMIP2A
4CITED4
4CLDN19
4CLDN5
4CLSPN
4CLSPN-DT
4CLTCL1
4CMPK1
4COL8A2
4COQ10B
4CRKL
No
4CSF3R
4CSMD2
4CXORF58
4CYB5RL
4CYP2J2
4CYP4A11
4CYP4A22
4CYP4B1
4CYP4X1
4CYP4Z1
4CYSRT1
4CZIB-DT
4DCAF8L1
4DCAF8L2
4DENND5A
4DGCR11
4DGCR2
4DGCR5
4DGCR6L
4DGCR8
4DIO1
4DIRC1
4DISC1-IT1
4DISC2
4DLGAP3
4DMAP1
4DMBX1
4DMRTA2
4DMRTB1
4DNALI1
4DPH2
4DPH7
4DYNLT4
4EBNA1BP2
4ECHDC2
4EDARADD
4EDN2
4EFCAB14
4ELAVL4
4ELOVL1
4ENTPD8
4EPHA10
4EPS15
4ERI3
4ERI3-IT1
4ERMAP
4ERO1B
4ESS2
4EVA1B
4EXD3
4EXO1
Ref
4EXO5
4EXO5-DT
4EXOC8
4FAF1
4FAM151A
4FAM171B
4FAM230G
4FAM246C
4FAM89A
4FGGY-DT
4FHL3
4FOXD2
4FOXJ3
4FOXO6
4FSAF1
4FTHL17
4FYB2
4GGPS1
4GJA4
4GJA9
4GJA9-MYCBP
4GJB4
4GJB5
4GLIS1
4GNB1L
4GNG4
4GNL2
4GPBP1L1
4GPR137B
4GPR199P
4GPX7
4GRIK3
4GSC2
4GTF3C3
4GUCA2A
4GUCA2B
4GULP1
4HEATR1
4HECTD3
4HIVEP3
4HMGB4
4HOOK1
4HPCAL4
4HSD52
4HSPD1
4HSPE1
4IFT25
4INPP1
4INPP5B
4IPO13
4IQCJ-SCHIP1
4JUN-DT
4KCNK1
4KDM4A
4KIAA0319L
4KIAA0754
4KIF2C
4KLF17
4KLF18
4KLHL22
4KMO
No
4KTI12
4LDLRAD1
4LGALS8
4LITATS1
4LNCATV
4LRP8
4LRP8-DT
4LRRC26
4LRRC41
4LRRC42
4LRRC74B
4LSM10
4LURAP1
4MAGEB1
4MAGEB10
4MAGEB18
4MAGEB2
4MAGEB3
4MAGEB4
4MAGEB5
4MAGEB6
4MAGEB6B
4MAGOH
4MAGOH-DT
4MANEAL
4MAP10
4MAP1LC3C
4MAP3K21
4MAP7D1
4MEAF6
4MED15
4MED8
4MFSD2A
4MFSD6
4MKNK1
4MOB3C
4MOB4
4MROH7
4MROH7-TTC4
4MRPL37
4MRPL40
4MRPL41
4MRPS15
4MT1HL1
4MTF1
4MYCBP
4MYO1B
4NAB1
4NABP1
4NDC1
4NDOR1
4NDUFS5
4NELFB
4NEMP2
4NID1
4NOXA1
4NRARP
4NSUN4
4NT5C1A
4NTPCR
4OMA1
4OPN3
4ORC1
4ORMDL1
4OSBPL9
4OSCP1
4OSGEPL1
4OXCT2
4P2RX6
4P3H1
4P3R3URF
4P3R3URF-PIK3R3
4PABPC4
4PCGEM1
4PCNX2
4PCYT1B
4PDZK1IP1
4PGBD5
4PHC2
4PIK3R3
4PLCL1
4PLD5
4PLK3
4PLPP3
4PMS1
Ref
4PNPLA7
4POU3F1
4PPP4R3C
4PRDX1
4PRKAA2
4PRPF38A
4PSMB2
4PTPRF
4RAB3B
4RAC3
4RAD54L
4RANBP1
4RBM34
4RFTN2
4RGS7
4RHBDL2
4RIMKLA
4RIMS3
4RNF11
4RNF208
4RNF220
4RNF224
4RNU5D-1
4RNU5F-1
4RPS8
4RRAGC-DT
4RSPO1
4RTL10
4RTN4R
4SAT1-DT
4SCARF2
4SCARNA23
4SCHIP1
4SCMH1
4SCMH1-DT
4SEPT5-GP1BB
4SEPTIN5
4SF3A3
4SF3B1
4SH3D21
4SHISAL2A
4SIPA1L2
4SLC1A7
4SLC2A1-DT
4SLC34A3
4SLC35F3
4SLC39A10
4SLC5A9
4SLC7A4
4SLFNL1
4SMAP2
4SMIM12
4SNIP1
4SNORA110
4SNORA14B
4SNORA55
4SNORA63C
4SNORA77B
4SPATA6
4SPRTN
4SSBP3
4SSNA1
4STAT4
4STK17B
4STK40
4STPG3
4SUPT20HL1
4SUPT20HL2
4TAB3
4TACSTD2
4TAL1
4TANGO2
4TARBP1
4TBX1
4TCEANC2
4TEKT2
4TESK2
4TEX38
4TFAP2E
4THAP7
4THRAP3
4TIE1
4TMCO2
4TMEFF2
4TMEM125
4TMEM161B
4TMEM203
4TMEM210
4TMEM269
4TMEM269-DT
4TMEM275
4TMEM35B
4TMEM53
4TMEM59
4TMEM61
4TMEM69
4TOE1
4TOMM20
4TOR4A
4TRABD2B
4TRAPPC3
4TRIM67
4TRK-CTT7-1
4TRMT2A
4TSNAX
4TSNAX-DISC1
4TSNAX-DT
4TSSK2
4TTC13
4TTC22
4TTC39A
4TTC4
4TUBA3FP
4TUT4
4TXNDC12
4TXNRD2
4UFD1
4USP24
4USP41
4UTP11
4WDR64
4WDR75
4WNK3
4YBX1
4YIPF1
4ZC3H12A
4ZC3H15
4ZDHHC8
4ZFP69
4ZFP69B
4ZFP69B-DT
4ZFYVE9
4ZMYM1
4ZMYM4
4ZMYM6
4ZMYND12
4ZMYND19
4ZNF362
4ZNF684
4ZNF691
4ZNF691-DT
4ZNF74
4ZP4
4ZSCAN20
4ZSWIM2
4ZSWIM5
4ZYG11A
4ZYG11B
4BORCS5

BLOC-1 related complex subunit 5

4BICD2

Perisylvian polymicrogyria

4NANS
Def

Perisylvian polymicrogyria

4FLVCR2
Def

Polymicrogyria

4NEDD4L
Def

Polymicrogyria

4LAGE3

Polymicrogyria

3ZNF423
Mod

zinc finger protein 423

3APC2
Str

APC regulator of Wnt signaling pathway 2

3TMTC3

Polymicrogyria

3TRMT10C
Mod

Polymicrogyria

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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.