Genes associated with “macrocephaly”

282 genes foundHPO: MacrocephalyOpen Targets: Macrocephaly
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

16 genes
1
CHD8 →

chromodomain helicase DNA binding protein 8

36
score
ClinGen: DefinitiveGTR ↑

Macrocephaly

Frequency
72%
n=46
P/LP Variants
3
OT Score
0.41
2
PTEN →

phosphatase and tensin homolog

34
score
ClinGen: DefinitiveACMG SFP2G #2GTR ↑

Progressive macrocephaly

Frequency
-
P/LP Variants
21
OT Score
0.52
3
33
score
P2G #3GTR ↑

Macrocephaly

Frequency
58%
n=48
P/LP Variants
10
OT Score
-
4
PTCH1 →

patched 1

31
score
ClinGen: DefinitiveP2G #9GTR ↑

Macrocephaly

Frequency
-
P/LP Variants
153
OT Score
0.33
5
27
score
ClinGen: DefinitiveP2G #46GTR ↑

Macrocephaly

Frequency
100%
n=3
P/LP Variants
7
OT Score
-
6
NFIB →

nuclear factor I B

26
score
ClinGen: DefinitiveGTR ↑

Macrocephaly

Frequency
81%
n=16
P/LP Variants
1
OT Score
0.53
7
25
score
ClinGen: DefinitiveP2G #49GTR ↑

Macrocephaly

Frequency
14%
n=49
P/LP Variants
8
OT Score
-
8
25
score
ClinGen: DefinitiveP2G #29GTR ↑

Relative macrocephaly

Frequency
78%
n=9
P/LP Variants
2
OT Score
-
9
PIK3CA →

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

25
score
ClinGen: DefinitiveP2G #13GTR ↑
Frequency
-
P/LP Variants
1
OT Score
0.34
25BRWD3
Def

Macrocephaly

25NFIA
Def

Macrocephaly

24EZH2
Def#5
23TRIO
Def

Macrocephaly

23FGFR3
Def#1

Macrocephaly

22DICER1
Def

Macrocephaly

21CHD3
Def

chromodomain helicase DNA binding protein 3

Consider

64 genes
19KPTN
Def

Macrocephaly

18TET3
Def

Macrocephaly

18ASPA
Def#12
18MLC1
Def

modulator of VRAC current 1

17TCIRG1
Def
17SUFU
Def
17KIF7
#4

Macrocephaly

15NSD1
Def#7

nuclear receptor binding SET domain protein 1

15GCDH
Def

Macrocephaly

15MTOR
Def

mechanistic target of rapamycin kinase

15ODC1

Macrocephaly

14IDS
Def
13KRAS
Def#6

Relative macrocephaly

13HSD17B4
Def

Macrocephaly

13AGA
Def
13COMMAD

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

13GUSB
Def
13IDDAM

INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND MACROCEPHALY; IDDAM

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

12NF1
Def

neurofibromin 1

12INPPL1

Macrocephaly

12RAF1
Def

Macrocephaly

12FOXP1
Def

Macrocephaly

11SHOC2
Def

Macrocephaly

11SOX9
Def

Relative macrocephaly

11PTCH2
Lim
11CACNA1E
Def

Macrocephaly

11SHANK3
Def

Macrocephaly

10HMGA2
Def

Relative macrocephaly

10AMER1
Def

Macrocephaly

10OBSL1

Relative macrocephaly

10STXBP1
Def

syntaxin binding protein 1

10RPS6KA3
Def

ribosomal protein S6 kinase A3

10SATB2
Def

SATB homeobox 2

10SPATA22
10ERF
Def

ETS2 repressor factor

10AKT3
Def

AKT serine/threonine kinase 3

9BRAF
Def

Macrocephaly

9ABCC9
Def

Macrocephaly

9ARSB
Def

Macrocephaly

9WDFY3
Def

WD repeat and FYVE domain containing 3

9ARID1B
Def
9CDKL5
Def
9KANSL1
Def
9KMT2E
Def
9MEF2C
Def
9TRIP12
Def
9ZMYND11
Def
9FBN1
DefSF

fibrillin 1

9ACAN
Def

Relative macrocephaly

9GPC4
#19
9PPP1CB
Def

Macrocephaly

8SMAD4
DefSF

Macrocephaly

8CTSK
Def

cathepsin K

8RAB39B
Def

Macrocephaly

8ITCH
Def

Relative macrocephaly

8DNMT3A
Def

DNA methyltransferase 3 alpha

8RPL5
Def

ribosomal protein L5

8SNX10
Def

Macrocephaly

8FAM111A
Def

Macrocephaly

Possible

148 genes — click to expand
8CTR9
Mod

CTR9 component of Paf1/RNA polymerase II complex

8AHDC1
Def

Macrocephaly

8L1CAM
Def

Macrocephaly

7MITF
Def

Macrocephaly

7TCF20
Def

Macrocephaly

7SLC35D1
Def

Macrocephaly

7MAPK1

mitogen-activated protein kinase 1

7IDUA
Def

Macrocephaly

7ABCC8
Def

ATP binding cassette subfamily C member 8

7CCDC40
Def
7CORO1A
Def
7PHOX2B
Def
7PRRT2
Def
7TCF7L2
Def
7ZBTB20
Def
7TRIT1
Def

tRNA isopentenyltransferase 1

7MAN1B1
Def

Macrocephaly

7PEX6
Def

Macrocephaly

7MT-CYB
Def

mitochondrially encoded cytochrome b

7PLCB4
Def

Macrocephaly

7DEPDC5
Def

Macrocephaly

7AKT1
Lim#8

Macrocephaly

7INPP5E
Def

Macrocephaly

7SON
Def

Macrocephaly

7DHCR24
Def

Relative macrocephaly

7RAC1
Def

Macrocephaly

6STRADA

Macrocephaly

6ZBTB7A
6NRXN3

neurexin 3

6PPP2CA
Def

Macrocephaly

6BICD2

Macrocephaly

6MAPK3
6PPP2R5D
Def

Macrocephaly

6PLEC
Def

Macrocephaly

6KDM5C
Def

Macrocephaly

6LBR
Mod

Relative macrocephaly

6LZTR1
DefSF

Relative macrocephaly

6EEF2

eukaryotic translation elongation factor 2

5PIK3R2
Def

Macrocephaly

5TBCK
Def

Macrocephaly

5KDM6B
Def

Relative macrocephaly

5EIF2B1
Def

Macrocephaly

5CSF1R
Def

Macrocephaly

5RTN4IP1
Def

reticulon 4 interacting protein 1

5TBC1D7

TBC1 domain family member 7

5CCDC186

coiled-coil domain containing 186

5DIPK1A

divergent protein kinase domain 1A

5PLOD1

procollagen-lysine,2-oxoglutarate 5-dioxygenase 1

5MT-ND4
Def

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4

5CUL4B
Def

Relative macrocephaly

5MGCPH

MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE; MGCPH

5SETD2
Def

Postnatal macrocephaly

5GSK3A

glycogen synthase kinase 3 alpha

5RAB5IF

RAB5 interacting factor

5ZNF526

zinc finger protein 526

5MAX
DefSF

Macrocephaly

5GNS
Def

Macrocephaly

5HEPACAM
Def

Macrocephaly

5NONO
Def

Macrocephaly

5THOC2
Def

Macrocephaly

5RFX7
Def

Macrocephaly

4SPTBN1
Def

Macrocephaly

4APC2
Str

Relative macrocephaly

4PDSS1
Mod

Macrocephaly

4ZFX
Str

Macrocephaly

4MAB21L2
Def

Macrocephaly

4TRAF7
Def

Macrocephaly

4STT3A
Def

Macrocephaly

4ROBO3
Def

Macrocephaly

4TFE3
Def

Macrocephaly

4RNF125

Macrocephaly

4WNT5A
Mod

Macrocephaly

4ALDOA
4ASPHD1
4BOLA2
4BOLA2-SMG1P6
4BOLA2B
4C16ORF54
4CDIPT
4CDIPTOSP
4CRHR1
4DOC2A
4DVL1
4FIMP1
4GDPD3
4HIRIP3
4INO80E
4KCTD13
4KCTD13-DT
4KIF22
4MAPT-IT1
4MVP-DT
4NPIPB12
4NPIPB13
4PAGR1
4PPP4C
4SEZ6L2
4SLX1A
4SLX1A-SULT1A3
4SLX1B
4SLX1B-SULT1A4
4SPPL2C
4SULT1A3
4SULT1A4
4TAOK2
4TBX6
4TLCD3B
4TMEM219
4YPEL3
4YPEL3-DT
4ZG16
4GALNT8

polypeptide N-acetylgalactosaminyltransferase 8

4KCNA6

potassium voltage-gated channel subfamily A member 6

4GNE
Def

Macrocephaly

4KDM1A
Def

Macrocephaly

4POR
Def

Macrocephaly

4B3GLCT
Def

Macrocephaly

4SUZ12

Macrocephaly

4FAM177A1

family with sequence similarity 177 member A1

4GNB2

Macrocephaly

4EED
Mod

Macrocephaly

4ZSWIM6
Def

Macrocephaly

4SRCAP
Def

Macrocephaly

4KCNC2
Def

Macrocephaly

4GAD1
Def

Macrocephaly

3BICRA
Def

Macrocephaly

3POLE
DefSF

Relative macrocephaly

3SETD1A

Macrocephaly

3CDH2
Lim

Macrocephaly

3MAN2C1
Mod

Macrocephaly

3ROR2

Macrocephaly

3CAMK2G
Lim

Macrocephaly

3HECTD4

Macrocephaly

3CSGALNACT1
Mod

Macrocephaly

3PCGF2
Str

Macrocephaly

3CCND2
Def

Macrocephaly

3DAG1
Def

Macrocephaly

3ETFA
Def

Macrocephaly

3ETFDH
Def

Macrocephaly

3KCNJ1
Def

Macrocephaly

3MOCS2
Def

Macrocephaly

3NDUFS4
Def

Progressive macrocephaly

3PIGA
Def

Macrocephaly

3POLR3A
Def

Macrocephaly

3SEC23B
Def

Macrocephaly

3SLC25A1
Def

Macrocephaly

3SNX14
Def

Relative macrocephaly

3TRIP11
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.