Genes associated with “microcephaly”

Diagnostic yield calculator →
2136 genes foundHPO: MicrocephalyOpen Targets: microcephaly1 PanelApp panel
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

60 genes
1
MCPH1 →

microcephalin 1

61
score
ClinGen: DefinitivePanel: Green ↑OMIM CSGTR ↑

MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE; MCPH1

Frequency
-
P/LP Variants
18
OT Score
0.81
2
WDR62 →

WD repeat domain 62

59
score
ClinGen: DefinitivePanel: Green ↑GTR ↑

Microcephaly

Frequency
100%
n=38
P/LP Variants
5
OT Score
0.82
3
KIF11 →

kinesin family member 11

56
score
ClinGen: DefinitivePanel: Green ↑GTR ↑
Frequency
-
P/LP Variants
7
OT Score
0.82
4
CEP152 →

centrosomal protein 152

56
score
ClinGen: DefinitivePanel: Green ↑P2G #30GTR ↑

Microcephaly

Frequency
100%
n=5
P/LP Variants
4
OT Score
0.80
5
ASPM →

assembly factor for spindle microtubules

47
score
ClinGen: DefinitivePanel: Green ↑GTR ↑
Frequency
-
P/LP Variants
8
OT Score
0.79
6
CDK5RAP2 →

CDK5 regulatory subunit associated protein 2

44
score
ClinGen: DefinitivePanel: Green ↑GTR ↑

Microcephaly

Frequency
-
P/LP Variants
2
OT Score
0.80
7
PNKP →

polynucleotide kinase 3'-phosphatase

44
score
ClinGen: DefinitivePanel: Green ↑GTR ↑
Frequency
-
P/LP Variants
5
OT Score
0.80
8
NDE1 →

nudE neurodevelopment protein 1

42
score
ClinGen: DefinitivePanel: Green ↑GTR ↑
Frequency
-
P/LP Variants
3
OT Score
0.80
9
TUBGCP6 →

tubulin gamma complex component 6

41
score
ClinGen: DefinitivePanel: Green ↑GTR ↑
Frequency
-
P/LP Variants
1
OT Score
0.79
40LMNB1
DefP:G

lamin B1

38PCNT
DefP:G

pericentrin

36STIL
DefP:G

STIL centriolar assembly protein

35WDFY3
DefP:R

WD repeat and FYVE domain containing 3

35DYRK1A
DefP:G

dual specificity tyrosine phosphorylation regulated kinase 1A

31PLK4
P:G

Microcephaly

31NBN
DefP:G#3
30RBBP8
P:G#12

Microcephaly

30KIF14
P:G

Microcephaly

30TRAPPC6B
DefP:G

Progressive microcephaly

30DHCR7
DefP:G#5
29MFSD2A
P:G

Progressive microcephaly

29ASNS
Def

Primary microcephaly

29KNL1
P:G

kinetochore scaffold 1

28RTTN
DefP:G

rotatin

28CEP135
P:G

centrosomal protein 135

27RAD21
DefP:G

Microcephaly

27MECP2
DefP:G
26FANCD2
DefP:G
26FANCC
DefP:G
25FANCA
DefP:G
25SLC1A4
DefP:G
25ZNF335
P:G

zinc finger protein 335

25FANCI
DefP:G
25PALB2
DefSFP:A

Microcephaly

24SLC25A19
LimP:G

solute carrier family 25 member 19

24NCAPD2
P:G

Primary microcephaly

23ERCC4
DefP:G
23FOXG1
DefP:G
23ERCC5
DefP:A
23QARS1
Def
23UBE3A
DefP:A
23TUBGCP4
P:G

tubulin gamma complex component 4

23ZEB2
DefP:G
22SMC3
DefP:G

Secondary microcephaly

22CASK
DefP:G

Progressive microcephaly

22AP4E1
DefP:G

Microcephaly

22BUB1
LimP:G

BUB1 mitotic checkpoint serine/threonine kinase

22SASS6
P:G

SAS-6 centriolar assembly protein

22FANCE
DefP:G
21PPFIBP1
P:G

PPFIB scaffold protein 1

21NCAPD3
P:G

non-SMC condensin II complex subunit D3

21ARCN1
P:A
21SLX4
DefP:G
21CTCF
DefP:G
21FANCL
DefP:G
21VPS13B
Def#8

vacuolar protein sorting 13 homolog B

20TOP3A
P:G

Microcephaly

20CTNNB1
DefP:G
20BRCA2
DefSFP:G
20ARFGEF2
Def

Microcephaly

Consider

203 genes
20PAH
Def
20LIG4
DefP:G
20ERCC2
Def#16
19CDK6
P:A

cyclin dependent kinase 6

19FANCG
DefP:G
19RNU4ATAC
DefP:G

RNA, U4atac small nuclear

19FANCF
DefP:G
19TRIO
DefP:G
19ASXL1
Def
19BPTF
DefP:G

bromodomain PHD finger transcription factor

19BUB1B
DefP:G
19GPT2
DefP:G

Secondary microcephaly

18EFTUD2
DefP:G

Microcephaly

18AKT3
DefP:A
18ANKLE2
P:G

ankyrin repeat and LEM domain containing 2

18BLM
DefP:G
18MYCN
DefP:G

Microcephaly

18CEP57
DefP:G
17ATP1A2
DefP:G

Microcephaly

17LMNB2
P:G

lamin B2

17DDX11
DefP:G
17DIAPH1
DefP:G
17DPP6
DisP:R

Microcephaly

17STAMBP
P:G

Progressive microcephaly

16SMARCA5
ModP:G

SNF2 related chromatin remodeling ATPase 5

16COPB2
P:A

Microcephaly

16CENPF
P:G
16SETD2
Def

Microcephaly

16WDR11
P:G

WD repeat domain 11

15ARF3
P:G

ARF GTPase 3

15PAFAH1B1

Secondary microcephaly

15PCDH12
P:G
15PUS7
P:G

Microcephaly

15POGZ
DefP:G
15SLC9A6
DefP:G
15TERT
Def
15NSUN2
Def
14PHC1
P:R

polyhomeotic homolog 1

14ASXL3
Def
14PPP2R1A
Def
14PSAT1
Def

Microcephaly

14ERCC3
Def
14KAT6A
Def

Microcephaly

14SC5D

Microcephaly

14VRK1
P:G

Microcephaly

14TNPO2
P:G

transportin 2

14NUP37

nucleoporin 37

13AP4B1
DefP:A
13DNMT3A
DefP:G
13DYNC1H1
Def
13EPG5
Def
13GABRB3
Def
13GRIN2B
Def
13HIBCH
Def
13IDDABS

INTELLECTUAL DEVELOPMENTAL DISORDER WITH ABNORMAL BEHAVIOR, MICROCEPHALY, AND SHORT STATURE; IDDABS

13MAGEL2
Def
13MCCRP1

MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1; MCCRP1

13MCIDDS

MICROCEPHALY, CATARACTS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSTONIA WITH ABNORMAL STRIATUM; MCIDDS

13MCLMR

MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR IMPAIRED INTELLECTUAL DEVELOPMENT; MCLMR

13MMACHC
Def
13MTHFR
Def
13OCA2
Def
13TRMT10A
P:G
13XPA
Def
13XPC
Def
13MED17
P:A

Secondary microcephaly

13ORC1
P:G

Microcephaly

13NSDHL
Mod
12GATA4
Def
12RFX7
Def

Microcephaly

12CTU2
P:G
12ANK1
Def
12TMEM216
Def
12MCM7
P:A

minichromosome maintenance complex component 7

12IGF1R
P:G
12TRAPPC9
DefP:G

Secondary microcephaly

12BRCA1
DefSF
12ESCO2
Def#14

Microcephaly

12WDPCP
Def
11CRNKL1
P:G

Primary microcephaly

11FBN1
DefSF
11MEIS2
Def
11TCF12
Def
11ATM
Def

Microcephaly

11CDC6
LimP:R

Microcephaly

11ABCC6
Def
11AFG3L2
Def
11AP4M1
DefP:A
11MTR
Def
11MYH11
DefSF
11PHGDH
Def
11TUBG1
DefP:G

Microcephaly

11ATP6V0A2
Def

Progressive microcephaly

11TTI1
P:G

Microcephaly

10YIF1B
DefP:A

Microcephaly

10DLAT
Mod
10TRIP13
P:A
10NCAPH
P:R

non-SMC condensin I complex subunit H

10SLC38A3
P:G

Microcephaly

10UFC1
P:G

Secondary microcephaly

10AOPEP
10ATP10A
10BIVM-ERCC5
10CZ1P-ASNS
10DYNC1I2
P:G
10GABRA5
10GABRG3
10HERC2
10METTL5
P:G
10MRPL49
P:G
10NARS1
Mod
10NPAP1
10PRUNE1
P:G
10PWAR1
10PWAR4
10PWAR5
10PWAR6
10PWARSN
10PWRN1
10PWRN2
10RAD51
P:G
10SNRPN
10SNURF
10TMX2
P:G
10UGP2
P:G
10WDR73
P:G
10SLC20A2
10ZNF526
P:G

Microcephaly

10FOXRED1
Def

Secondary microcephaly

9TRA2B
DefP:A

Microcephaly

9TP53RK
P:G

Primary microcephaly

9AFG2A
Def
9BLOC1S6
Def
9DNAAF4
Def
9GATM
Def
9GLDN
Def
9KBTBD13
Def
9KCTD7
Def
9MTFMT
Def
9MYO5A
Def
9NDUFS6
Def
9RAB27A
Def
9SDHA
Def
9SLC12A1
Def
9SLC6A19
Def
9SLC6A3
Def
9SORD
Def
9SPG11
Def
9THOC6
Def
9TPM1
DefSF
9UBE3B
Def
9WDR72
Def
9HDAC4
9GOLGA6L2
9MKRN3
9RNF14
9SCN1A
Def

Secondary microcephaly

9MKS1
Def

Microcephaly

9FRA10AC1
P:G

Secondary microcephaly

9ABCC1
Lim
9BCL11A
Def
9CHD2
Def
9CHD7
Def
9FZD4
Def
9HIKESHI
DefP:R
9HMBS
Def
9HNF1B
Def
9KMT2A
Def
9MEN1
DefSF
9SHANK2
Def
9SIN3A
Def
9SPRED1
Def
9KATNB1

Microcephaly

9UGGT1
P:A

Secondary microcephaly

8GTF3C3
P:G

Microcephaly

8STT3A
Def

Microcephaly

8CLASP1

cytoplasmic linker associated protein 1

8CARS2
Mod
8MYZAP
Mod
8PIGB
Mod
8TRPM7
Mod
8RAB3GAP1
Def

Microcephaly

8BUD13

Microcephaly

8BMERB1
8CEP20
8MARF1
8MPV17L
8MPV17L-BMERB1
8MRE11
RefP:A
8NOMO3
8NPIPA5
8NPIPA6
8NPIPA7
8NTAN1
8PDCD6IP
P:A
8PDXDC1
8RNASEH2C
Def

Progressive microcephaly

8RNF168
Def

Microcephaly

8RRN3
8TM2D3
P:A
8VPS51
P:A
8ZNF276
8ZNHIT3
P:A

Possible

1834 genes — click to expand
8JAM3

Secondary microcephaly

8TRAPPC14

trafficking protein particle complex subunit 14

8GRIA4
Mod

Microcephaly

8PTPN23
P:G

Microcephaly

8PTCH1
Def

Microcephaly

8NEXMIF
Def

Secondary microcephaly

7MTHFS

Microcephaly

7AFG2B
Lim
7B2M
Lim
7DMXL2
Lim
7IRX4
Lim
7SQOR
Lim
7ANKRD17
Def

Microcephaly

7ACAD8
Def
7ACAN
Def
7ACAT1
Def
7ACTC1
DefSF
7AGXT
Def
7ALG8
Def
7ALG9
Def
7ALPK3
Def
7AP3B2
Def
7ATP13A3
Def
7BBS1
Def
7BBS4
Def
7BBS5
Def
7BEST1
Def
7BSCL2
Def
7C1QTNF5
Def
7C2CD3
Def
7CABP2
Def
7CABP4
Def
7CACNA1D
Def
7CAPN3
Def
7CAPN5
Def
7CBL
Def
7CD3D
Def
7CD3E
Def
7CD3G
Def
7CDAN1
Def
7CDK4
Def
7CEP164
Def
7CFAP300
Def
7CHST14
Def
7CHSY1
Def
7CIB2
Def
7CLDN16
Def
7CLN6
Def
7COL4A1
Def
7COL6A3
Def
7CPT1A
Def
7CTNND1
Def
7CTSF
Def
7D2HGDH
Def
7DDB2
Def
7DPAGT1
Def
7DPF2
Def
7DYNC2H1
Def
7EFEMP2
Def
7EFL1
Def
7EIF2AK4
Def
7ETFA
Def
7FAH
Def
7FAM111A
Def
7FAN1
Def
7FERMT3
Def
7FGF12
Def
7FGF3
Def
7FOLR1
Def
7GANAB
Def
7GLB1
Def
7GREM1
Def
7HCN4
Def
7HEPACAM
Def
7HEXA
Def
7IDH2
Def
7IGHMBP2
Def
7IKBKB
Def
7IL10RA
Def
7INPPL1
Def
7IVD
Def
7KCNJ1
Def
7KCNJ5
Def
7KIF1A
Def
7KMT5B
Def
7LINS1
Def
7LMBRD1
Def
7LRP5
Def
7LRTOMT
Def
7MAP2K1
Def
7MAPKBP1
Def
7MASP1
Def
7MLH1
DefSF
7MPI
Def
7MTMR2
Def
7MTRR
Def
7MYO7A
Def
7MYRF
Def
7NADSYN1
Def
7NARS2
Def
7NAXD
Def
7NDUFS8
Def
7NDUFV1
Def
7NECTIN1
Def
7NR2E3
Def
7NR2F2
Def
7NRROS
Def
7OPA1
Def
7OPN1LW
Def
7PACS1
Def
7PCCA
Def
7PCYT1A
Def
7PEX13
Def
7PIK3R1
Def
7PLIN1
Def
7PTS
Def
7PYGM
Def
7QDPR
Def
7RASGRP1
Def
7RASGRP2
Def
7RDX
Def
7RELA
Def
7RLBP1
Def
7ROBO3
Def
7RP1L1
Def
7SCAPER
Def
7SDHAF2
DefSF
7SDHD
DefSF
7SERPING1
Def
7SLC24A1
Def
7SLITRK6
Def
7SMAD6
Def
7SOX11
Def
7SPTBN2
Def
7STRC
Def
7TCIRG1
Def
7TECTA
Def
7TFRC
Def
7TGDS
Def
7TGFBR2
DefSF
7TMEM126A
Def
7TMEM126B
Def
7TP63
Def
7TPP2
Def
7TRAPPC4
Def
7TRPM1
Def
7TTC12
Def
7TYR
Def
7UBR1
Def
7VPS11
Def
7VPS33B
Def
7CEP63
P:A

Primary microcephaly

7PLPBP
Def

Secondary microcephaly

7POMT1
Def

Microcephaly

7PLP1
Def

Microcephaly

7EXOSC3

Progressive microcephaly

6FDXR
Def

Secondary microcephaly

6ADAM10
6ADAMTS16
6ADAMTS16-DT
6ADCY2
6ALDH1A2
6ANKDD1A
6ANXA2
6APH1B
6AQP9
6ARPP19
6ATOSA
6ATP8B4
6BCL2L10
6BNIP2
6BRD9
6C2CD4A
6C2CD4B
6CA12
6CCDC127
6CCNB2
6CCPG1
6CEP72
6CEP72-DT
6CGNL1
6CIAO2A
6CLPTM1L
6COPS2
6COXFA4L3
6CSNK1G1
6CTDSPL2
6CTXN2
6CYFIP1
6CYP19A1
6DAPK2
6DPP8
6DTWD1
6DUOX1
6DUOX2
6DUOXA1
6DUOXA2
6EID1
6EIF3J
6EXOC3
6FAM227B
6FAM81A
6FANCD2OS
6FBXL22
6FGF7
6FOXB1
6FRMD5
6GABPB1
6GALK2
6GCNT3
6GNB5
6GOLM2
6GTF2A2
6HACD3
6HERC1
6ICE1
6ICE2
6IFT46
6IGDCC3
6IGDCC4
6INTS14
6IRX1
6IRX2
6IRX2-DT
6IRX4-DT
6LACTB
6LDHAL6B
6LEO1
6LPCAT1
6LRRC14B
6LSINCT5
6LYSMD2
6MAPK6
6MED10
6MINDY2
6MNS1
Dis
6MNS16A
6MRPL36
6MYEF2
6MYO1E
6MYO5C
6NEDD4
6NIPA1
6NIPA2
6NKD2
6OAZ2
6ONECUT1
6PARP16
6PATL2
6PCLAF
6PDCD6
6PDCD6-AHRR
6PDCD6-DT
6PDCD7
6PIERCE2
6PIF1
6PLEKHG4B
6PLEKHO2
6POLR2M
6PYGO1
6RAB8B
6RASL12
6RBPMS2
6RNF111
6RNU5A-1
6RPS27L
6RSL24D1
6SCG3
6SECISBP2L
6SEMA6D
6SHC4
6SLC12A7
No
6SLC24A5
6SLC27A2
6SLC28A2
6SLC30A4
6SLC51B
6SLC6A18
6SLC9A3
6SLC9A3-OT1
6SMPD4
6SNX1
6SNX22
6SPG21
6SPPL2A
6SRD5A1
6TENT4A
6TERB2
6TERLR1
6TEX9
6TIPE3
6TLN2
6TMOD2
6TMOD3
6TRIM69
6TRIP4
6UBAP1L
6UBE2QL1
6UNC13C
6USP3
6USP50
6USP8
6VPS13C
6ZDHHC11
6ZDHHC11B
6ZNF280D
6ZNF609
6MID1
Def

Microcephaly

6TNRC6B
Def

Microcephaly

6ADSL
Def

Microcephaly

6ALX4
Def

Microcephaly

6AAGAB
6ABCC4
Mod
6ATL3
Mod
6B4GAT1
Mod
6CCDC32
Mod
6COX5A
Mod
6DNAJB13
Mod
6EED
Mod
6ETS1
Mod
6FADD
Mod
6FAM111B
Mod
6FLI1
Mod
6FTH1
Mod
6FXYD2
Mod
6HOMER2
Mod
6HYLS1
Mod
6KCNK4
Mod
6KLF13
Mod
6KLHL41
Mod
6MAN2C1
Mod
6MESP1
Mod
6MPZL2
Str
6NDUFA10
Mod
6NDUFAF1
Mod
6NDUFC2
Mod
6RAB11A
Mod
6REL
Mod
6RNU2-2
Str
6RNU4-2
Str
6RNU5B-1
Str
6ROBO4
Mod
6RPS17
6SMAD3
SF
6SNUPN
Str
6SUCLG1
Mod
6TMEM138
Mod
6UNC93B1
Mod
6ZIC2
6ZPR1
P:R
6FUT8
Def

Microcephaly

6DLL1
Def

Microcephaly

6AFF2
Def

Microcephaly

6RAC1
Def

Microcephaly

6CTSD
Def

Microcephaly

5FARS2
Def

Microcephaly

5IBA57
Def

Microcephaly

5EIF3F
Def

Microcephaly

5NOTCH3
Def

Microcephaly

5RPS19
Def

Microcephaly

5UNC13A
Def

Secondary microcephaly

5APOA4
Lim
5ARPP21
Lim
5ARX
Def

Microcephaly

5BANF1
Lim
5BCL9
Lim
5CCDC50
Lim
5CHD1L
Lim
5CLPB
Lim
5COX8A
Lim
5DYNLT2B
Lim
5EFNB2
Lim
5EXOSC2
Lim
5FGFR1
Def

Microcephaly

5HEPHL1
Lim
5HYOU1
Lim
5LIPT2
Lim
5MAN2A2
Lim
5MARK2

Microcephaly

5MCPHA

MICROCEPHALY, AMISH TYPE; MCPHA

5MIMIS

MICROCEPHALY-MICROMELIA SYNDROME; MIMIS

5MS4A1
Lim
5MYO9A
Lim
5NEDMISBA

NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN IMAGING ABNORMALITIES; NEDMISBA

5NOP10
Lim
5NRXN2
Lim
5NSMCE3
Lim
5OTUD7A
Lim
5PDCD1
Lim
5PDGFD
Lim
5PHF6
Def

Microcephaly

5PIGW
Lim
5POLD3
Lim
5POLG
Lim
5POU2AF1
Lim
5RYR3
Lim
5SOX7
Lim
5STT3B
Lim
5TJP1
Lim
5UQCC3
Lim
5USP34
Lim
5KCNK3
Def

Microcephaly

5SPTBN1
Def

Microcephaly

5ACBD5
Def

Progressive microcephaly

5COL18A1
Def

Microcephaly

5ENTPD1
Def

Microcephaly

5IFT74
Def

Microcephaly

5OSTM1
Def

Microcephaly

5TRIT1
Def

Microcephaly

5ZIC1
Def

Microcephaly

5SKI
Def

Microcephaly

5CLPP
Def

Microcephaly

5IFT140
Def

Microcephaly

5IFIH1
Def

Microcephaly

5SPTAN1
Def

Microcephaly

4GFM2
Mod

Microcephaly

4DEGS1
Def

Secondary microcephaly

4KYNU
Def

Microcephaly

4NDUFS4
Def

Microcephaly

4SPR
Def

Microcephaly

4BRF1

Microcephaly

4AAMDC
4AASDHPPT
4ABCG4
4ABHD13
4ABHD17C
4ABHD2
4ACAA1
4ACACA
4ACAP2
4ACER3
4ACKR3
4ACP6
4ACRV1
4ACSBG1
4ACTE1P
4ACTN3
4ACY3
4ADAMTS15
4ADAMTS17
4ADAMTS7
4ADAMTS8
4ADAMTSL3
4ADPGK
4AGAP1
4AGBL1
4AHNAK
4AKAP13
4ALDH1A3
4ALDH3B1
4ALDH3B2
4ALKBH8
4AMOTL1
4ANAPC15
4ANGPT2
4ANGPTL5
4ANKK1
4ANKMY1
4ANKRD13D
4ANKRD34C
4ANKRD42
4ANKRD42-DT
4ANKRD49
4ANKRD63
4ANO1
4ANO7
4ANP32A
4ANPEP
4AP3M2
4AP3S2
4AP5B1
4APBA2
4APLNR
4APLP2
4APOA1
4APOA5
4APOC3
4APRG1
4AQP11
4AQP12A
4AQP12B
4ARAP1
4ARGLU1
4ARGLU1-DT
4ARHGAP11A
4ARHGAP11B
4ARHGAP20
4ARHGAP32
4ARHGAP42
4ARHGEF12
4ARHGEF17
4ARID3B
4ARIH1
4ARL2
4ARL2-SNX15
4ARNT2
4ARPIN
4ARPIN-AP3S2
4ARRB1
4ARRDC4
4ASB1
4ASB18
4ASB7
4ASRGL1
4ATG16L2
4ATG2A
4ATG4B
4ATP10A-DT
4ATP13A3-DT
4ATP13A4
4ATP13A5
4ATP5MG
4B3GAT1
4B3GAT1-DT
4B3GAT3
4B3GNT2
4B3GNT6
4B4GAT1-DT
4BACE1
4BAHD1
4BARX2
4BATF2
4BCAS3
4BCL2A1
4BCL6
4BCL9L
4BCO2
4BDH1
4BIRC2
4BIRC3
4BLK
Ref
4BNC1
4BRMS1
4BTBD1
4BTBD18
4BTG4
4BUD13-DT
4C11ORF24
4C11ORF52
4C11ORF65
4C11ORF68
4C11ORF71
4C11ORF86
4C11ORF87
4C11ORF97
4C11ORF98
4C15ORF32
4C15ORF40
4C15ORF61
4C15ORF62
4C17ORF78
4C2CD2L
4C2ORF74-DT
4C8ORF74
4CADM1
4CALML4
4CAPN1
4CAPN10
4CAPN10-DT
4CARD16
4CARD17
4CARD18
4CARNS1
4CASP1
4CASP12
4CASP4
4CASP5
4CATSPER1
4CATSPER2
4CATSPERH
4CATSPERZ
4CBLIF
4CCDC15
4CCDC15-DT
4CCDC33
4CCDC81
4CCDC82
4CCDC83
4CCDC85B
4CCDC86
4CCDC87
4CCDC88B
4CCDC89
4CCDC90B
4CCDC9B
4CCND1
4CCNDBP1
4CCR4
4CCS
No
4CCT4
4CD248
4CD276
4CD5
4CD6
4CDC42BPG
4CDC42EP2
4CDCA5
4CDIN1
4CDK2AP2
4CELF6
4CEMIP
Dis
4CENATAC
4CENATAC-DT
4CEP126
4CEP19
4CEP295
4CERNA1
4CERS3
4CFAP161
4CFAP210
4CFAP68
4CFAP90
4CFL1
4CHAC1
4CHEK1
No
4CHKA-DT
4CHORDC1
4CHP1
4CHRDL2
4CHRFAM7A
4CHRM1
4CHRM5
4CHRNA3
4CHRNA5
4CHRNA6
4CHRNA7
Ref
4CHRNB3
4CHRNB4
4CIB1
4CIMAP1C
4CKMT1A
4CKMT1B
4CLASP2
4CLCF1
4CLDN1
4CLDN10
4CLDN23
4CLDN25
4CLK3
4CLNS1A
4CLP1
4CLYBL
4CMTM6
4CMTM7
4CMTM8
4CNE-2
4CNE-3
4CNE-5
4CNIH2
4CNOT10
4CNOT12
4CNTN5
4COA4
4COL4A2
4COLCA1
4COMMD1
4COMMD4
4COPS8
4COPS8-DT
4COPS9
4CORO1B
4CORO2B
4CPEB1
4CPLX3
4CPN2
4CPSF7
4CRABP1
4CRE3
4CREBZF
4CROCC2
4CRTAM
4CRTAP
4CRTC3
4CRYAB
4CSKMT
4CSPG4
4CST6
4CT62
4CTDSPL
4CTTN-DT
4CUL5
4CWC15
4CWF19L2
4CXCR5
4CYB561A3
4CYP11A1
4CYP1A1
4CYP1A2
4DAGLA
4DCLK3
4DCLRE1B
4DCUN1D5
4DDB1
4DDI1
4DDIAS
4DDX10
4DDX25
4DDX52
4DDX6
4DEFB108B
4DEFB131B
4DEFB134
4DEFB135
4DEFB136
4DEMA1
4DENND4A
4DET1
4DEUP1
4DGAT2
4DGAT2-DT
4DHCR7-DT
4DHRS11
4DIS3L
4DISC1FP1
4DISP2
4DIXDC1
4DKK4
4DLEC1
4DLG1
4DLG2
4DLL4
4DNAAF4-CCPG1
4DNAJA4
4DNAJC17
4DNAJC3
4DNAJC3-DT
4DNAJC4
4DOCK9
4DOCK9-DT
4DPH6
4DPP3
4DPP3-DT
4DRAP1
4DRC11
4DRC12
4DRC9
4DRD2
4DSCAML1
4DTX4
4DTYMK
4DUSP14
4DUSP28
4DYNC1LI1
4DZIP1
4EDC3
4EEF1G
4EHBP1
4EHBP1L1
4EHD1
4EHD4
4EI24
4EIF1AD
4EIF3J-DT
4ELL3
4ELMOD1
4EMC10
4EMC4
4EMC7
4EML3
4EMSY-DT
4ENDOD1
4ENEMAL
4ENTREP2
4EPB42
4EPM2AIP1
4ERI1
4ESPNL
4ESRRA
4EXD1
4EXPH5
4FADS1
4FADS2
4FADS3
4FAM111A-DT
4FAM157A
4FAM161A
4FAM167A
4FAM168A
4FAM174B
4FAM181B
4FAM219B
4FAM240C
4FAM43A
4FAM76B
4FAM86C1P
4FAM89B
4FARP1
4FARP2
4FASTKD1
4FASTKD3
4FAT3
4FBN1-DT
4FBXL2
4FBXO22
4FBXO45
4FCHSD2
4FDFT1
4FDX1
4FDXACB1
4FEM1B
4FEN1
4FEZ1
4FGF14
4FGF14-IT1
4FGF19
4FGF4
4FKBP2
4FKSG29
4FLJ42393
4FLRT1
4FMO5
Dis
4FOLH1B
4FOLR2
4FOLR3
4FOSL1
4FOXR1
4FRA11A
4FRA11B
4FRMD8
4FSD2
4FSIP1
4FURIN
4FUT4
4FXYD6
4FXYD6-FXYD2
4FYTTD1
4FZD4-DT
4GAB2
4GABPB1-IT1
4GADL1
4GAL3ST2
4GAL3ST3
4GARIN5A
4GBX2
4GCHFR
4GCOM1
4GDPD4
4GDPD5
4GDPGP1
4GGACT
4GGNBP2
4GJA5
Dis
4GJA8
4GJD2
4GLB1L2
4GLB1L3
4GLTC1
4GLYAT
4GLYATL1
4GLYATL1B
4GLYATL2
4GNG3
4GOLGA4
4GOLGA6A
4GOLGA6B
4GOLGA6C
4GOLGA6D
4GOLGA6L1
4GOLGA6L24
4GOLGA6L25
4GOLGA6L6
4GOLGA8A
4GOLGA8B
4GOLGA8F
4GOLGA8G
4GOLGA8H
4GOLGA8J
4GOLGA8M
4GOLGA8N
4GOLGA8O
4GP5
4GPC1
4GPC5
4GPC5-IT1
4GPC6
4GPD1L
Dis
4GPHA2
4GPHRB
4GPR137
4GPR152
4GPR176
4GPR18
4GPR180
4GPR183
4GPR35
4GPR83
4GRAMD1B
4GRAMD2A
4GRIK4
4GRK2
4GRM5
4GSTP1
4GTPBP6
4GUCY1A2
4GVQW3
4H2AX
4HAPLN3
4HAUS2
4HDDC3
4HDLBP
4HEPN1
4HES1
4HES6
4HINFP
4HMG20A
4HNRNPUL2
4HNRNPUL2-BSCL2
4HOATZ
4HS6ST3
4HSPA8
4HSPB2
4HSPB2-C11ORF52
4HTR3A
4HTR3B
4HYKK
No
4IDH3A
4IFT54
4IGSF9B
4IL16
4IL18
4IL18BP
4IL1RAP
4ILKAP
4IMP3
4INCENP
4ING1
4ING5
4INO80
Dis
4INSYN1
4INTS4
4INTS5
4IPO5
4IQGAP1
4IREB2
4IRS2
4ISG20
4ISL2
4ISLR2
4ITGA11
4ITGA9
4ITGBL1
4ITPKA
4IZUMO1R
4JMJD7
4KAT5
4KATNBL1
4KBTBD3
4KCNE3
Dis
4KCNK4-CATSPERZ
4KCNK7
4KCTD14
4KCTD21
4KDM2A
4KDM4D
4KDM4E
4KDM4F
4KIF23
4KIF7
4KIRREL3
Dis
4KLC2
4KLHL23
4KLHL25
4KLHL30
4KLHL35
4KNSTRN
4KRTAP5-10
4KRTAP5-11
4KRTAP5-7
4KRTAP5-8
4KRTAP5-9
4LAMTOR1
4LARP6
4LBHD1
4LCMT2
4LGALS12
4LHX1
4LHX1-DT
4LINGO1
4LMAN1L
4LNC-RHL1
4LNCARGI
4LNCRNA-IUR
4LNCROPM
4LOXL1
4LPCAT4
4LRCH3
4LRFN4
4LRP2
No
4LRRC10B
4LRRC15
4LRRC28
4LRRC32
4LRRC49
4LRRC51
4LRRC55
4LRRC57
4LRRC7
4LRRFIP1
4LRRFIP2
4LRRK1
4LRRN4CL
4LRTM3
4LSG1
4LTBP3
4LTO1
4LYSMD4
4MAB21L4
4MACROD1
4MAJIN
4MALAT1
4MAML2
No
4MAP1A
4MAP2K5
4MAP3K11
4MAP4K2
4MAP6
4MAPDA
4MAPK6-DT
4MASCRNA
4MB21D2
4MBNL2
4MCTP2
4MDH1
4ME3
4ME3-DT
4MED19
4MED25
Dis
4MEF2A
4MEGF11
4MELTF
4MESP2
4METTL16
4METTL21C
4MEX3B
4MFAP1
4MFGE8
4MFHAS1
4MGC2889
4MINAR1
4MINDY2-DT
4MIRLET7A2
4MMP1
4MMP10
4MMP12
4MMP13
4MMP20
4MMP27
4MMP3
4MMP7
4MMP8
4MOGAT2
4MORF4L1
4MPEG1
4MPZL3
4MRGPRD
4MRGPRF
4MRM1
4MRPL11
4MRPL16
4MRPL21
4MRPL46
4MRPL48
4MRPS11
4MS4A10
4MS4A12
4MS4A13
4MS4A14
4MS4A15
4MS4A18
4MS4A2
4MS4A3
4MS4A4A
4MS4A4E
4MS4A5
4MS4A6A
4MS4A6E
4MS4A7
4MS4A8
4MSANTD2
4MSANTD4
4MTA2
4MTERF4
4MTMR10
4MTMR9
4MTNR1B
4MUC20
4MUC4
4MUS81
4MYD88
4MYEOV
4MYO16
4MYO19
4NAA40
4NAALAD2
4NAALADL1
4NALCN
4NALF1
4NALF1-IT1
4NBPF11
4NCAM1
4NCBP2
4NCBP2AS2
4NDUFC2-KCTD14
4NDUFV1-DT
4NEAT1
4NECTIN1-DT
4NEIL1
4NEIL2
4NEO1
4NEU3
4NEU4
4NFRKB
4NHERF4
4NKAPD1
4NLRX1
4NOMO1
4NOMO2
4NOX4
4NOX5
4NPAS4
4NPIPA1
4NPIPA2
4NPIPA3
4NPIPA8
4NPIPA9
4NRG4
4NTM-IT
4NTRK3
Dis
4NUDT22
4NUDT8
4NUMA1
4NUSAP1
4NUTM1
4NXF1
4NXPE1
4NXPE2
4NXPE4
4OIP5
4OOSP1
4OOSP2
4OOSP3
4OOSP4A
4OOSP4B
4OPCML
4OPCML-IT1
4OPSIN-LCR
4OR10AG1
4OR10D3
4OR10G4
4OR10G6
4OR10G7
4OR10G8
4OR10G9
4OR10Q1
4OR10S1
4OR10V1
4OR10W1
4OR1S1
4OR1S2
4OR2AT4
4OR4D10
4OR4D11
4OR4D5
4OR4D6
4OR4D9
4OR4M2
4OR4N4
4OR5A1
4OR5A2
4OR5AK2
4OR5AL1
4OR5AN1
4OR5AP2
4OR5AR1
4OR5AS1
4OR5B12
4OR5B17
4OR5B2
4OR5B21
4OR5B3
4OR5D16
4OR5D18
4OR5F1
4OR5I1
4OR5J2
4OR5L1
4OR5L2
4OR5M1
4OR5M10
4OR5M11
4OR5M3
4OR5M8
4OR5M9
4OR5T1
4OR5T2
4OR5T3
4OR5W2
4OR6B2
4OR6B3
4OR6M1
4OR6Q1
4OR6T1
4OR6X1
4OR8A1
4OR8B12
4OR8B2
4OR8B3
4OR8B4
4OR8B8
4OR8D1
4OR8D2
4OR8D4
4OR8G1
4OR8G3
4OR8G5
4OR8H1
4OR8H2
4OR8H3
4OR8I2
4OR8J1
4OR8J2
4OR8J3
4OR8K1
4OR8K3
4OR8K5
4OR8U1
4OR8U3
4OR9G1
4OR9G4
4OR9I1
4OR9Q1
4OR9Q2
4OSBPL10
4OTUB1
4OTX1
4OVOL1
4OXGR1
4OXSR1
4P2RX3
4P2RY2
4P2RY6
4P3H2
4P4HA3
4PAAF1
4PAFAH1B2
4PAK1
4PAK2
4PAK6
4PANX1
4PANX3
4PAPOLG
4PAQR5
4PARP6
4PATE1
4PATE2
4PATE3
4PATE4
4PATL1
4PATL1-DT
4PCCA-DT
4PCF11
4PCNX3
4PCSK6
No
4PCSK7
4PDCD6IP-DT
4PDE2A
4PDE8A
4PDGFDDN
4PDIA3
4PEAK1
4PELI1
4PELI3
4PER2
4PEX11A
No
4PGA3
4PGA4
4PGA5
4PGBD4
4PGM2L1
4PGPEP1L
4PHGR1
4PHLDB1
4PHOSPHO2
4PHOSPHO2-KLHL23
4PHOX2A
4PIAS1
4PICALM
4PIGBOS1
4PIH1D2
4PINX1
4PINX1-DT
4PIRC66
4PITPNM1
4PIWIL4
4PKNOX2
4PKNOX2-DT
4PLA2G10
4PLA2G4B
4PLA2G4D
4PLA2G4E
4PLA2G4F
4PLAAT1
4PLAAT2
4PLAAT3
4PLAAT4
4PLAAT5
4PLAT
Dis
4PLCB2
4PLCB3
4PLCD1
4PLCXD1
4PLEKHB1
4PLET1
4POGLUT2
4POGLUT3
4POLA2
4POLD4
4POLR2G
4POTEB
4POTEB2
4POU2AF2
4POU2AF3
4POU2F3
4PPCDC
4PPFIA1
4PPIP5K1
4PPME1
4PPP1CA
4PPP1R14B
4PPP1R14D
4PPP1R2
4PPP1R3B
4PPP1R3B-DT
4PPP1R7
4PPP2R1B
4PPP2R3B
4PPP2R5B
4PPP6R3
4PRAG1
4PRC1
4PRDM10
4PRDM10-DT
4PRDX5
4PRG2
4PRG3
4PRKAB2
Dis
4PRMT2IP
4PRPF19
4PRPF19-DT
4PRR21
4PRSS23
4PRSS51
4PRSS55
4PSMA4
4PSTPIP1
4PTGDR2
4PTPN9
4PTPRCAP
4PUS10
4PUS3
4PWRN3
4PWRN4
4PYDC2
4RAB17
4RAB17-DT
4RAB1B
4RAB20
4RAB30
4RAB30-DT
4RAB38
4RAB39A
4RAB3IL1
4RAB6A
4RAD9A
4RAMAC
4RAMP1
4RAP2A
4RASGRF1
4RBM14
4RBM14-RBM4
4RBM4
4RBM44
4RBM4B
4RBM7
4RCCD1
4RCE1
4RCN2
4RCOR2
4REC114
4REL-DT
4RELA-DT
4REXO2
4RIN1
4RMDN3
4RNF113B
4RNF121
4RNF13
4RNF169
4RNF214
4RNF26
4RNPEPL1
4RNU6-1
4RNVU1-1
4RNVU1-2
4RNVU1-21
4RNVU1-22
4RNVU1-3
4RNVU1-7
4RNVU1-8
4ROM1
4RPAP1
4RPL35A
4RPL39L
4RPL4
4RPLP1
4RPP25
4RPS25
4RPS3
4RPS6KA4
4RPS6KB2
4RPUSD2
4RPUSD4
4RSF1
4RSF1-IT1
4RTF1
4RTN3
4RTN4RL2
4RTP1
4RTP2
4RTP4
4RTP5
4RUBCN
4SAC3D1
4SANBR
4SART1
4SAXO2
4SAXO4
4SCAMP2
4SCAMP5
4SCARNA15
4SCARNA9
4SCG5
4SCGB1A1
4SCGB1D1
4SCGB1D2
4SCGB1D4
4SCGB2A1
4SCGB2A2
4SCN2B
Dis
4SCN3B
Ref
4SCN4B
Dis
4SCYL1
4SEC11A
4SELENOH
4SELENOS
4SEMA4B
4SEMA5A
4SEMA7A
4SENCR
4SENP5
4SENP8
4SEPSECS
4SEPTIN2
4SERF2
4SERINC4
4SERPINH1
4SESN3
4SF1
4SF3B2
4SH2D7
4SH3GL3
4SIDT2
4SIK2
4SIK3
4SIPA1
4SIRAL1
4SIRT4
4SKIC8
4SKOR1
4SLC10A2
4SLC12A6
4SLC15A1
4SLC15A3
4SLC22A10
4SLC22A11
4SLC22A12
4SLC22A24
4SLC22A25
4SLC22A6
4SLC22A8
4SLC22A9
4SLC25A45
4SLC28A1
4SLC29A2
4SLC35F2
4SLC35G5
4SLC36A4
4SLC37A2
4SLC37A4
4SLC3A2
4SLC43A1
4SLC43A3
4SLC51A
4SLCO2B1
4SLCO3A1
4SLITRK1
4SLITRK5
4SMCO1
4SMCO4
4SMIM19
4SMIM35
4SMIM38
4SMTNL1
4SNAP23
4SNAPC5
4SNAR-I
4SNED1
4SNHG1
4SNHG18
4SNORA1
4SNORA107
4SNORA18
4SNORA24B
4SNORA25
4SNORA32
4SNORA40
4SNORA41B
4SNORA57
4SNORA70B
4SNORA70E
4SNORA8
4SNORA90
4SNORA99
4SNRPA1
4SNX15
4SNX19
4SNX32
4SNX33
4SORL1
4SOX21
4SPA17
4SPATA19
4SPATA8
4SPCS2
4SPDYC
4SPESP1
4SPINDOC
4SPINT1
4SPTBN5
4SRP14
4SRPRA
4SRSF8
4SSH3
4SSRP1
4ST14
4ST20
4ST20-MTHFS
4ST3GAL4
4ST6GAL1
4ST8SIA2
4STARD10
4STARD5
4STARD9
4STIP1
4STK24
4STK25
4STOML1
4STRA6
4STX3
4STX5
4STX5-DT
4SUSD5
4SV2B
4SYNRG
4SYT12
4SYT7
4SYTL2
4SYVN1
4TADA2A
4TAF1D
4TAF6L
4TAGLN
4TALAM1
4TANAR
4TARS3
4TAS2R1
4TBC1D10C
4TBC1D21
4TBC1D2B
4TBCEL
4TBCEL-TECTA
4TBRG1
4TBX10
4TCF12-DT
4TCN1
4TENM4
4TESMIN
4TEX12
4TEX30
4TEX54
4TGM5
4TGM7
4THAP10
4THAP12
4THAP4
4THBS1
4THRSP
4THSD4
4THY1
4THYN1
4TICRR
4TIGD3
4TIMM10
4TIMM8B
4TIPIN
4TIRAP
4TLCD5
4TLE3
4TLNRD1
4TM4SF19
4TM4SF19-DYNLT2B
4TM6SF1
4TM7SF2
4TM9SF2
4TMC3
4TMCO5A
4TMED3
4TMEM109
4TMEM109-DT
4TMEM123
4TMEM123-DT
4TMEM132A
4TMEM133
4TMEM134
4TMEM135
4TMEM151A
4TMEM17
4TMEM179B
4TMEM202
4TMEM207
4TMEM218
4TMEM223
4TMEM225
4TMEM25
4TMEM258
4TMEM266
4TMEM44
4TMEM45B
4TMEM62
4TMEM87A
4TMPPE
4TMPRSS13
4TMPRSS4
4TMPRSS5
4TMTC3
4TMTC4
4TMX2-CTNND1
4TNFSF13B
4TNK2
Ref
4TOP6BL
4TP53AIP1
4TP53BP1
4TPBGL
4TPCN2
4TPRG1
4TRANK1
4TRE-TTC2-2
4TRF-GAA1-3
4TRF-GAA1-5
4TRF-GAA2-1
4TRH-GTG1-2
4TRH-GTG1-3
4TRH-GTG1-4
4TRH-GTG1-7
4TRH-GTG1-8
4TRH-GTG1-9
4TRIM29
4TRIM49
4TRIM49C
4TRIM49D1
4TRIM49D2
4TRIM51
4TRIM64
4TRIM64B
4TRIM71
4TRIM77
4TRK-TTT2-1
4TRK-TTT3-4
4TRK-TTT5-1
4TRL-TAA3-1
4TRMT112
4TRN-GTT9-2
4TRP-AGG2-4
4TRP-TGG2-1
4TRPC6
4TRPT1
4TRQ-CTG3-2
4TRQ-CTG4-1
4TRQ-CTG7-1
4TRR-TCT3-2
4TRS-GCT3-1
4TRV-TAC1-1
4TRV-TAC2-1
4TSGA10IP
4TSLIG3B
4TSPAN3
4TTBK2
4TTC12-DT
4TTC23
4TTC36
4TTC9C
4TUBGCP5
4TUT1
4TWIST2
4TYRO3
4UBAC2
4UBASH3B
4UBE2F
4UBE2F-SCLY
4UBE2L6
4UBE2Q2
4UBE4A
4UBL7
4UBP1
4UBR3
4UBTFL1
4UBXN1
4UBXN7
4UCP2
4UCP3
4UGGT2
4UICLM
4ULK3
4UNC45A
4UPK2
4USP2
4USP28
4USP34-DT
4USP35
4UTS2B
4UVRAG
4UVRAG-DT
4VDAC3
4VEGFB
4VPS13C-DT
4VPS18
4VPS26B
4VPS37C
4VPS39
4VPS54
4VSIG10L2
4VSIG2
4VSTM5
4VWA5A
4WDR53
4WDR74
4WDR76
4WDR93
4WHAMM
4WNT11
4XKR6
4XNDC1N
4XNDC1N-ZNF705EP-ALG1L9P
4XPO1
4XRRA1
4XXYLT1
4XYLT1
4YAP1
4YAP1-DT
4YIF1A
4YPEL4
4ZBTB16
4ZBTB3
4ZBTB44
4ZBTB44-DT
4ZC3H12C
4ZDHHC19
4ZDHHC24
4ZDHHC5
4ZFAND6
4ZFP91
4ZFP91-CNTF
4ZFPL1
4ZFYVE19
4ZIC5
4ZNF106
4ZNF202
4ZNF592
4ZNF705E
4ZNF710
4ZNF770
4ZNF774
4ZNF860
4ZNHIT2
4ZNRD2
4ZNRD2-DT
4ZP1
4ZSCAN2
4ZSCAN29
4ZW10
4ZWILCH
4ASPA
Def

Microcephaly

4RFT1
Mod

Microcephaly

4CACNA1G
Def

Microcephaly

4ELAC2
Def

Microcephaly

4SCN3A
Def

Microcephaly

4HIVEP2

Secondary microcephaly

4MAP1B
Str

Microcephaly

4NDUFA8
Mod

Microcephaly

4POLR3B
Def

Microcephaly

4PET100
Def

Microcephaly

3JARID2
Def

Microcephaly

3KDM6B
Def

Microcephaly

3TAF2

Secondary microcephaly

3TASP1

Microcephaly

3SRCAP
Def

Microcephaly

3HMGCL
Def

Microcephaly

3SLC25A12
Mod

Primary microcephaly

3MAU2

Primary microcephaly

3MDGA2

Secondary microcephaly

3BRAT1
Def

Microcephaly

3DST
Def

Primary microcephaly

3GBA1
Def

Microcephaly

3ITGA3
Def

Microcephaly

3LGI1
Def

Secondary microcephaly

3MOCS1
Def

Microcephaly

3MRPS22
Def

Microcephaly

3NANS
Def

Microcephaly

3SET
Def

Microcephaly

3TBC1D24
Def

Secondary microcephaly

3TDP2
Def

Microcephaly

3TLK2
Def

Microcephaly

3TUSC3
Def

Microcephaly

3WWOX
Def

Microcephaly

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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.