Genes associated with “macrocephaly”

Diagnostic yield calculator →
685 genes foundHPO: Macrocephaly
Some sources returned errors (1)

openTargets: Error: OT search: 403

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

18 genes
1
36
score
ClinGen: DefinitiveP2G #3GTR ↑

Macrocephaly

Frequency
58%
n=48
P/LP Variants
13
OT Score
-
2
35
score
ClinGen: DefinitiveGTR ↑

Macrocephaly

Frequency
88%
n=131
P/LP Variants
6
OT Score
-
3
31
score
ClinGen: DefinitiveGTR ↑

Macrocephaly

Frequency
72%
n=46
P/LP Variants
12
OT Score
-
4
29
score
ClinGen: DefinitiveP2G #1GTR ↑

Macrocephaly

Frequency
100%
n=1
P/LP Variants
8
OT Score
-
5
27
score
ClinGen: DefinitiveP2G #46GTR ↑

Macrocephaly

Frequency
100%
n=3
P/LP Variants
10
OT Score
-
6
25
score
ClinGen: DefinitiveP2G #9GTR ↑

Macrocephaly

Frequency
-
P/LP Variants
80
OT Score
-
7
25
score
ClinGen: DefinitiveP2G #49GTR ↑

Macrocephaly

Frequency
14%
n=49
P/LP Variants
5
OT Score
-
8
25
score
ClinGen: DefinitiveACMG SFP2G #2GTR ↑

Progressive macrocephaly

Frequency
-
P/LP Variants
44
OT Score
-
9
25
score
P2G #4GTR ↑

Macrocephaly

Frequency
93%
n=27
P/LP Variants
3
OT Score
-
25MED12
Def

Postnatal macrocephaly

24MTOR
Def

Macrocephaly

23ASPA
Def#12

Macrocephaly

21BRWD3
Def

Macrocephaly

20EZH2
Def#5
20CHD4
Def

Macrocephaly

20INPPL1
Def

Macrocephaly

20GUSB
Def

Macrocephaly

20KMT2E
Def

Macrocephaly

Consider

89 genes
20NFIB
Def

Macrocephaly

20ZBTB20
Def

Macrocephaly

19KPTN
Def

Macrocephaly

18GPC3
Def#17

Macrocephaly

17TCIRG1
Def
17ZBTB7A

Macrocephaly

16NSD1
Def#7

Macrocephaly

16MLC1
Def

Macrocephaly

15SETD2
Def

Postnatal macrocephaly

15DICER1
Def
15TRIP12
Def
15DVL1

Macrocephaly

14WNT5A
Mod

Macrocephaly

14NFIA
Def
13KRAS
Def#6

Relative macrocephaly

13AMER1
Def

Macrocephaly

13NF1
Def

Macrocephaly

13HSD17B4
Def

Macrocephaly

13AGA
Def
13CHD3
Def
13COMMAD

COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS; COMMAD

13CORO1A
Def
13IDDMSSD

INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY; IDDMSSD

13MACID

MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT; MACID

13MDFPMR

MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR

13MNDLFH

MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH

13MRD63

INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD63

13PRRT2
Def
13SUFU
Def
13TET3
Def
13TRIO
Def
13DVL3

Macrocephaly

12MAPK3
11BRAF
Def

Macrocephaly

11PTCH2
Lim
10RIT1
Def

Relative macrocephaly

10SOX9
Def

Macrocephaly

10PIK3CA
Ref#13

Progressive macrocephaly

10ALDOA
10ASPHD1
10C16ORF54
10CDIPT
10CDIPTOSP
10DOC2A
10FIMP1
10GDPD3
10HIRIP3
10INO80E
10KCTD13
10KCTD13-DT
10KIF22
10MVP-DT
10OBSL1
10PAGR1
10PPP4C
10SEZ6L2
10SPATA22
10TAOK2
10TBX6
10TLCD3B
10TMEM219
10YPEL3
10YPEL3-DT
10ZG16
10GNS
Def

Macrocephaly

9FAM111A
Def
9HMGA2
Def
9ODC1

Macrocephaly

9ARID1B
Def
9ARID2
Def
9COL2A1
Def
9FOXP1
Def
9KANSL1
Def
9KMT2D
Def
9MEF2C
Def
9MITF
Def
9TBL1XR1
Def
9WDFY3
Def
9ZMYND11
Def
9ACAN
Def

Relative macrocephaly

9GPC4
#19
9PPP1CB
Def

Macrocephaly

8SMAD4
DefSF

Macrocephaly

8EXT2
Def

Macrocephaly

8RAB39B
Def

Macrocephaly

8TRIP11
Def

Macrocephaly

8TAOK1
Def

Macrocephaly

8SNX10
Def

Macrocephaly

8D2HGDH
Def

Macrocephaly

Possible

537 genes — click to expand
8SHOC2
Def

Relative macrocephaly

8L1CAM
Def

Macrocephaly

8MTM1
Def

Macrocephaly

8MAP2K1
Def#20

Relative macrocephaly

7CUL7

Relative macrocephaly

7HERC1

Macrocephaly

7TCF20
Def

Macrocephaly

7MAP2K2
Def

Relative macrocephaly

7ERF
Def

Macrocephaly

7SLC35D1
Def

Macrocephaly

7WDR35
Def

Macrocephaly

7IDUA
Def

Macrocephaly

7ABCC9
Def
7ACVRL1
Def
7AGXT
Def
7B4GALNT1
Def
7CCDC40
Def
7CDK4
Def
7CDKL5
Def
7COL6A3
Def
7CYP27B1
Def
7CYP4V2
Def
7DPY19L2
Def
7DRC2
Def
7F11
Def
7KIF1A
Def
7KIF5A
Def
7KLKB1
Def
7MSRB3
Def
7PHOX2B
Def
7RDH5
Def
7RXYLT1
Def
7SCN8A
Def
7SLC11A2
Def
7SLC25A4
Def
7SMARCC2
Def
7STAC3
Def
7SUOX
Def
7TBK1
Def
7TCF7L2
Def
7TRAPPC11
Def
7TSFM
Def
7TUBA1A
Def
7PEX1
Def

Macrocephaly

7PEX6
Def

Macrocephaly

7INPP5E
Def

Macrocephaly

7AHDC1
Def

Relative macrocephaly

7FBN1
DefSF

Macrocephaly

7SON
Def

Relative macrocephaly

7RAC1
Def

Macrocephaly

6ADK
Def

Macrocephaly

6BOLA2B
6CCDC8
6SLX1A
6SLX1A-SULT1A3
6SULT1A3
6HDAC4
6ANKRD17
Def

Macrocephaly

6PAK1
6PPP2CA
Def

Macrocephaly

6DHCR24
Def

Macrocephaly

6GNB1
Def

Macrocephaly

6PPP2R5D
Def

Macrocephaly

6CAMTA1
Def

Macrocephaly

6UPF3B
Def

Macrocephaly

6ANO6
Mod
6BLOC1S1
Mod
6DDX23
Mod
6FAT1
Str
6LEMD3
6NCKAP1L
Mod
6NDUFA10
Mod
6PAN2
Mod
6PRIM1
Mod
6RPS26
6STAT6
Str
6EML1
Def

Macrocephaly

6PLEC
Def

Macrocephaly

6TNRC6B
Def

Macrocephaly

6KDM5C
Def

Macrocephaly

6LBR
Mod

Relative macrocephaly

6KICS2

Macrocephaly

6MECP2
Def

Macrocephaly

6LZTR1
DefSF

Relative macrocephaly

5PIK3R2
Def

Macrocephaly

5TBCK
Def

Macrocephaly

5DLL1
Def

Macrocephaly

5CWC27
Def

Macrocephaly

5KDM6B
Def

Relative macrocephaly

5PPP2R5C
Def

Macrocephaly

5AVIL
Lim
5COX14
Lim
5CUL4B
Def

Relative macrocephaly

5FMR1
Def

Macrocephaly

5MARS1
Lim
5MGCPH

MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE; MGCPH

5NFE2
Lim
5PDCD1
Lim
5PDLIM3
Lim
5PDMCS

POLYDACTYLY-MACROCEPHALY SYNDROME; PDMCS

5POC1A

Macrocephaly

5PRICKLE1
Lim
5PRPH
Lim
5SHMT2
Lim
5MAX
DefSF

Macrocephaly

5LRP2
No #16

Macrocephaly

5ALG13
Def

Macrocephaly

5CNTNAP2
Def

Macrocephaly

5NONO
Def

Macrocephaly

5RFX7
Def

Macrocephaly

4CCDC22
Mod

Relative macrocephaly

4IFT81
Mod

Relative macrocephaly

4PDSS1
Mod

Macrocephaly

4ZFX
Str

Macrocephaly

4TFE3
Def

Macrocephaly

4RNF125

Macrocephaly

4RERE
Def

Macrocephaly

4ACKR3
4ACKR5
4ACSL1
4ACVR1B
4ADAMTS20
4ADCY6
4ADCY6-DT
4AGAP1
4AGAP2
4AMHR2
4AMIGO2
4ANKMY1
4ANKRD33
4ANKRD37
4ANKRD52
4ANO7
4ANP32D
4AQP12A
4AQP12B
4AQP2
4AQP5
4AQP6
4ARF3
4ARHGAP9
4ARHGEF25
4ASB1
4ASB18
4ASB8
4ASIC1
4ATF1
4ATF7
4ATF7-NPFF
4ATG101
4ATG4B
4ATP23
4ATP5F1B
4ATP5MC2
4AVPR1A
Dis
4BAZ2A
4BCDIN3D
4BIN2
4BLOC1S1-RDH5
4BOLA2
4BOLA2-SMG1P6
4C12ORF54
4C12ORF56
4C1QL4
4CACNB3
4CALCOCO1
4CAPN10
4CAPN10-DT
4CASP3
4CBX5
4CCDC110
4CCDC184
4CCNT1
4CD63
4CDK2
4CDKN2AIP
4CELA1
4CENPU
4CERS5
4CFAP96
4CFAP97
4CISTR
4CLDN22
4CLDN24
4CNPY2
4COPS8
4COPS8-DT
4COPS9
4COPZ1
4COQ10A
4COXFA4L2
4CRHR1
4CROCC2
4CSRNP2
4CTDSP2
4DAZAP2
4DBX2
4DCTN2
4DDIT3
4DIP2B
4DNAJC14
4DNAJC22
4DRC11
4DTX3
4DTYMK
4DUSP28
4EEF1AKMT3
4EIF4B
4ENDOU
4ENPP6
4ERBB3
4ESPL1
4ESPNL
4ESYT1
4FAIM2
4FAM149A
4FAM186A
4FAM186B
4FAM240C
4FAM242C
4FARP2
4FBXO36
4FIGNL2
4FIGNL2-DT
4FKBP11
4FLJ38576
4FMNL3
4FRA12A
4FRG1
4FRG1-DT
4FRG2
4FSD1L
4GAL3ST2
4GALNT6
4GBX2
4GDF11
4GIHCG
4GLI1
4GLS2
4GPC1
4GPD1
4GPR35
4GPR84
4GTSF1
4GXYLT1
4H1-7
4HDAC7
4HDLBP
4HES6
4HIGD1C
4HNRNPA1
4HOTAIR
4HOXC10
4HOXC11
4HOXC12
4HOXC13
4HOXC4
4HOXC5
4HOXC6
4HOXC8
4HOXC9
4HSD17B6
4IFT54
4IGFBP6
4IKZF4
4IL23A
4ILKAP
4ING2
4ING2-DT
4ING5
4INHBC
4INHBE
4IRAK4
4IRF2
4IRF2-DT
4ITGA5
4ITGA7
4ITGB7
4KANSL2
4KCNH3
4KLHL30
4KRT1
4KRT18
4KRT2
4KRT3
4KRT4
4KRT5
4KRT6A
4KRT6B
4KRT6C
4KRT7
4KRT71
4KRT72
4KRT73
4KRT74
4KRT75
4KRT76
4KRT77
4KRT78
4KRT79
4KRT8
4KRT80
4KRT81
4KRT82
4KRT83
4KRT84
4KRT85
4KRT86
4LACRT
4LALBA
4LARP4
4LETMD1
4LIMA1
4LMBR1L
4LRIG3
4LRIG3-DT
4LRP1
4LRP2BP
4LRRFIP1
4MAB21L4
4MAP3K12
4MAPT-IT1
4MARCHF9
4MBD6
4MCRS1
4METTL1
4MIRLET7I
4MIRLET7IHG
4MMP19
4MON2
4MTERF4
4MTNR1A
4MUCL1
4MYG1
4MYL6
4MYL6B
4MYO1A
Ref
4NAB2
4NABP2
4NCKAP5L
4NELL2
4NEMP1
4NEU4
4NEUROD4
4NPIPB12
4NPIPB13
4NR4A1
4NR4A1AS
4NXPH4
4OR10A7
4OR10AD1
4OR10P1
4OR2AP1
4OR5BS1
4OR6B2
4OR6B3
4OR6C1
4OR6C2
4OR6C3
4OR6C4
4OR6C6
4OR6C65
4OR6C68
4OR6C70
4OR6C74
4OR6C75
4OR6C76
4OR8S1
4OR9K2
4ORI6
4ORMDL2
4OS9
4PA2G4
4PCBP2
4PCBP2-OT1
4PCED1B
4PDE1B
4PDZRN4
4PER2
4PFDN5
4PIP4K2C
4PLAG1
4POU6F1
4PPHLN1
4PPM1H
4PPP1R1A
4PPP1R7
4PRIMPOL
4PRKAG1
4PRPF40B
4PRR13
4PRR21
4PTGES3
4PUS7L
4PYM1
4R3HDM2
4R3HDM2-DT
4RAB17
4RAB17-DT
4RAB5B
4RACGAP1
4RAMP1
4RAPGEF3
4RASSF3
4RBM44
4RBMS2
4RDH16
4RHEBL1
4RND1
4RNF41
4RNPEPL1
4RPAP3
4RPAP3-DT
4RPGRIP1
4RPL41
4RTP5
4RWDD4
4SARNP
4SCAF11
4SCAT2
4SDR9C7
4SENP1
4SEPTIN2
4SLC16A7
4SLC38A1
4SLC38A2
4SLC38A4
4SLC39A5
4SLC48A1
4SLC4A8
4SLC61A1
4SLX1B
4SLX1B-SULT1A4
4SMAGP
4SMARCD1
4SMIM41
4SMUG1
4SNED1
4SNORA105C
4SNORA2A
4SNORA2B
4SNORA2C
4SNX25
4SOAT2
4SORBS2
4SP1
4SP7
4SPATS2
4SPMIP11
4SPPL2C
4SPRYD3
4SPRYD4
4SRGAP1
4STAT2
4STK25
4STOX2
4SULT1A4
4SUPT16H
4TAC3
4TAFA2
4TAMALIN
4TANAR
4TARBP2
4TBC1D30
4TENM3
4TESPA1
4TFCP2
4THAP4
4TIMELESS
4TLR3
4TMBIM6
4TMDD1
4TMEM106C
4TMEM117
4TMPRSS12
4TMT1A
4TMT1B
4TNS2
4TRIML1
4TRIML2
4TROAP
4TRS-CGA4-1
4TSPAN31
4TUBA1B
4TUBA1C
4TWF1
4TWIST2
4UBE2F
4UBE2F-SCLY
4UFSP2
4UICLM
4USP15
4WIF1
4WNT1
4WNT10B
4WWC2
4YAF2
4ZBTB39
4ZC3H10
4ZCRB1
4ZFP42
4ZNF385A
4ZNF641
4ZNF740
4GNE
Def

Macrocephaly

4POR
Def

Macrocephaly

4B3GLCT
Def

Macrocephaly

4CAMK2A
Def

Macrocephaly

4APC2
Str

Macrocephaly

4KCNH1
Def

Macrocephaly

4KMT5B
Def

Macrocephaly

4ZSWIM6
Def

Macrocephaly

4KCNC2
Def

Macrocephaly

3SETD1A

Macrocephaly

3ROR2

Macrocephaly

3HECTD4

Macrocephaly

3CSGALNACT1
Mod

Macrocephaly

3IFT43
Mod

Macrocephaly

3SEC24D

Macrocephaly

3B4GALT7
Def

Macrocephaly

3BBS1
Def

Macrocephaly

3DAG1
Def

Macrocephaly

3DYNC2I1
Def

Macrocephaly

3ETFDH
Def

Macrocephaly

3KCNJ1
Def

Macrocephaly

3MAN2B1
Def

Macrocephaly

3MOCS1
Def

Macrocephaly

3MOCS2
Def

Macrocephaly

3MYMK
Def

Macrocephaly

3NDUFS4
Def

Progressive macrocephaly

3PCGF2
Def

Relative macrocephaly

3PIGA
Def

Macrocephaly

3PIGT
Def

Macrocephaly

3POLE
DefSF

Relative macrocephaly

3SEC23B
Def

Macrocephaly

3SMO
Def

Macrocephaly

3SNX14
Def

Relative macrocephaly

Related phenotype searches

Intellectual disabilityGlobal developmental delaySpeech/language delayNeurodegenerationDevelopmental regressionSeizuresEpileptic encephalopathyStatus epilepticus

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