Genes associated with “abnormal corpus callosum morphology”

221 genes foundHPO: Abnormal corpus callosum morphologyOpen Targets: Abnormal corpus callosum morphology3 PanelApp panels
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

12 genes
1
DCC →

DCC netrin 1 receptor

31
score
ClinGen: DefinitiveGTR ↑

Agenesis of corpus callosum

Frequency
100%
n=4
P/LP Variants
-
OT Score
0.51
2
COL4A1 →

collagen type IV alpha 1 chain

28
score
ClinGen: DefinitiveP2G #3GTR ↑
Frequency
-
P/LP Variants
1
OT Score
0.41
3
CREBBP →

CREB binding lysine acetyltransferase

26
score
ClinGen: DefinitivePanel: Green ↑GTR ↑

Agenesis of corpus callosum

Frequency
100%
n=1
P/LP Variants
-
OT Score
0.34
4
RAB3GAP1 →

RAB3 GTPase activating protein catalytic subunit 1

26
score
ClinGen: DefinitivePanel: Green ↑P2G #22GTR ↑

Agenesis of corpus callosum

Frequency
-
P/LP Variants
1
OT Score
0.33
5
24
score
ClinGen: DefinitivePanel: Green ↑GTR ↑

Hypoplasia of the corpus callosum

Frequency
18%
n=11
P/LP Variants
1
OT Score
-
6
KANSL1 →

KAT8 regulatory NSL complex subunit 1

24
score
ClinGen: DefinitivePanel: Green ↑P2G #35GTR ↑
Frequency
-
P/LP Variants
-
OT Score
0.27
7
L1CAM →

L1 cell adhesion molecule

23
score
ClinGen: DefinitiveGTR ↑

Hypoplasia of the corpus callosum

Frequency
100%
n=2
P/LP Variants
-
OT Score
0.55
8
MED12 →

mediator complex subunit 12

23
score
ClinGen: DefinitiveP2G #42GTR ↑

Agenesis of corpus callosum

Frequency
60%
n=5
P/LP Variants
-
OT Score
0.33
9
22
score
Panel: Green ↑P2G #6GTR ↑

Agenesis of corpus callosum

Frequency
27%
n=22
P/LP Variants
-
OT Score
-
22RAB18
ModP:G#18

Hypoplasia of the corpus callosum

21GLI2
P:G

Partial agenesis of the corpus callosum

20ASXL1
Def

Agenesis of corpus callosum

Consider

56 genes
20HUWE1
Def

HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1

18CDH2
Lim

Agenesis of corpus callosum

18MAP2K2
DefP:G

Thin corpus callosum

18EPG5
Def#20

Agenesis of corpus callosum

17UBE3A
Def

ubiquitin protein ligase E3A

17LRP2
No #2

Partial agenesis of the corpus callosum

17NFIX
Def#17

Hypoplasia of the corpus callosum

17FLNA
Def

Thin corpus callosum

17ARID1B
Def

Partial agenesis of the corpus callosum

16KAT6B
Def

Thin corpus callosum

16ARX
Def

Agenesis of corpus callosum

16PAK3
Def

p21 (RAC1) activated kinase 3

16NSD1
Def#19

Partial agenesis of the corpus callosum

15DHCR24
Def#8

Agenesis of corpus callosum

15FGFR1
DefP:G

Agenesis of corpus callosum

15ERCC5
Def

ERCC excision repair 5, endonuclease

14DHCR7
DefP:G

Partial agenesis of the corpus callosum

13TCF4
Def#16

Hypoplasia of the corpus callosum

13ACCPN

AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY; ACCPN

13ACOGS

AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS

13AMC4

ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4

13NEDDFAC

NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC

13NEDEHCC

NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM; NEDEHCC

13NEDTCHAL

NEURODEVELOPMENTAL DISORDER WITH THIN CORPUS CALLOSUM, HYPOTONIA, AND ABSENT LANGUAGE; NEDTCHAL

13SPATCCM

SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY; SPATCCM

13CACNA2D1
Dis

Hypoplasia of the corpus callosum

13FOXG1
Def

forkhead box G1

12ERCC2
Def

ERCC excision repair 2, TFIIH core complex helicase subunit

12SPG11
Def#11

SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE; SPG11

12FANCB
DefP:G

Hypoplasia of the corpus callosum

12PTCH1
Def

Agenesis of corpus callosum

11IGF1R
P:G

Hypoplasia of the corpus callosum

11ARID1A
Def

Abnormal corpus callosum morphology

10SIX3
#4

Agenesis of corpus callosum

10POGZ
Def

pogo transposable element derived with ZNF domain

10TBR1
Def

T-box brain transcription factor 1

10WDR45
Def

WD repeat domain 45

10BCL11A
Def

BCL11 transcription factor A

10SETD2
Def

SET domain containing 2, histone lysine methyltransferase

10PIDD1
Def

p53-induced death domain protein 1

10SMARCC1
Def

SWI/SNF related BAF chromatin remodeling complex subunit C1

10TUBA1A
Def

tubulin alpha 1a

9C12ORF57
9PDHA1
Def

Agenesis of corpus callosum

9DYNC1H1
Def

Hypoplasia of the corpus callosum

9SMARCA4
Def

Agenesis of corpus callosum

9OPHN1
Def

oligophrenin 1

9AHDC1
Def

Hypoplasia of the corpus callosum

9ADNP
Def

activity dependent neuroprotector homeobox

9GCSH
Def

Thin corpus callosum

8ZEB2
Def

Hypoplasia of the corpus callosum

8CEP85L
Def

centrosomal protein 85L

8CSTB
Def

cystatin B

8PIGA
Def

Hypoplasia of the corpus callosum

8TBC1D20

Hypoplasia of the corpus callosum

8TBCE
ModP:G

Hypoplasia of the corpus callosum

Possible

102 genes — click to expand
8NDE1
Def

Agenesis of corpus callosum

8FA2H
Def

Hypoplasia of the corpus callosum

8CC2D2A
Def

Agenesis of corpus callosum

8TUBB3
Def

Hypoplasia of the corpus callosum

8MLH1
DefSF

Agenesis of corpus callosum

7VPS50

Hypoplasia of the corpus callosum

7DROSHA

drosha ribonuclease III

7APC2
Str

Hypoplasia of the corpus callosum

7SIN3A
Def

Dysplastic corpus callosum

7FKTN
Def

Agenesis of corpus callosum

7PEX5
Def
7COQ4
Def

Thin corpus callosum

7GLDC
Def

Agenesis of corpus callosum

7FKRP
Def

Hypoplasia of the corpus callosum

7CST3
Lim

Abnormal corpus callosum morphology

7AP4M1
Def

adaptor related protein complex 4 subunit mu 1

7MAGED2
Def

MAGE family member D2

7YARS1
Def

tyrosyl-tRNA synthetase 1

7DNM1
Def

Agenesis of corpus callosum

7RPGRIP1L
Def

Abnormal corpus callosum morphology

6POLR3B
Def

Hypoplasia of the corpus callosum

6CEP290
Def

Hypoplasia of the corpus callosum

6ADD1

adducin 1

6ACTB
Def

Agenesis of corpus callosum

6HSD17B4
Def

Hypoplasia of the corpus callosum

6DNAH7
Lim

dynein axonemal heavy chain 7

6ADCY5
Def

Thin corpus callosum

6BUB1B
Def

Agenesis of corpus callosum

6STXBP1
Def

Hypoplasia of the corpus callosum

6HPDL
Mod

Hypoplasia of the corpus callosum

6RNF220

ring finger protein 220

6SUPT16H

SPT16 homolog, facilitates chromatin remodeling subunit

5C2CD3
Def

Partial agenesis of the corpus callosum

5GBA2
Def

Hypoplasia of the corpus callosum

5TCF12
Def

Partial agenesis of the corpus callosum

5HNRNPR
Def

Hypoplasia of the corpus callosum

5STAMBP

Hypoplasia of the corpus callosum

5HERC2

HECT and RLD domain containing E3 ubiquitin protein ligase 2

5KIF2A

Hypoplasia of the corpus callosum

5TAF8

TATA-box binding protein associated factor 8

5KMT2E
Def

Abnormal corpus callosum morphology

5MCCCHCM

MEGA-CORPUS-CALLOSUM SYNDROME WITH CEREBELLAR HYPOPLASIA AND CORTICAL MALFORMATIONS; MCCCHCM

5NFIA
Def

Agenesis of corpus callosum

5PYCR1
Def

Agenesis of corpus callosum

5SLC1A2
Def

Hypoplasia of the corpus callosum

5CDK5RAP2
Def

Partial agenesis of the corpus callosum

5FLVCR1
Def

Thin corpus callosum

5HIBCH
Def

Agenesis of corpus callosum

5IFT140
Def

Hypoplasia of the corpus callosum

5IFT27
Def

Hypoplasia of the corpus callosum

5LYRM7
Def

Thin corpus callosum

5MOCS2
Def

Thin corpus callosum

5NFU1
Def

Corpus callosum atrophy

5NMNAT1
Def

Hypoplasia of the corpus callosum

5PEX16
Def

Corpus callosum atrophy

5SH3PXD2B
Def

Hypoplasia of the corpus callosum

5ATP6V1A
Lim

Thin corpus callosum

5EARS2
Def

Agenesis of corpus callosum

5TUBB2B
Def

Partial agenesis of the corpus callosum

4MAN2C1
Mod

Partial agenesis of the corpus callosum

4NT5C2
Def

Dysplastic corpus callosum

4PIGL
Def

Thin corpus callosum

4TMX2

Hypoplasia of the corpus callosum

4BIVM-ERCC5
4SLC12A6

solute carrier family 12 member 6

4SNHG14
4TUBG1
Def

Thin corpus callosum

4SLC4A10
Str

Thin corpus callosum

4SPEN
Def

Agenesis of corpus callosum

4FZD3

frizzled class receptor 3

4GRM7

glutamate metabotropic receptor 7

4HK1

Hypoplasia of the corpus callosum

4PEX2
Def

Agenesis of corpus callosum

4KLHL20
Mod

Thin corpus callosum

4NADK2
Mod

Hypoplasia of the corpus callosum

4RAP1B
Mod

Thin corpus callosum

4ATP1A2
Def

Thin corpus callosum

4CRPPA
Def

Partial agenesis of the corpus callosum

4RTTN
Def

Agenesis of corpus callosum

4MED12L
Def

Hypoplasia of the corpus callosum

4OTUD5
Mod

Hypoplasia of the corpus callosum

4ZIC1
Def

Agenesis of corpus callosum

4RHOBTB2
Def

Hypoplasia of the corpus callosum

4TNR
Def

Partial agenesis of the corpus callosum

3CNOT3
Def

Thick corpus callosum

3KATNB1

Partial agenesis of the corpus callosum

3PIGB
Mod

Hypoplasia of the corpus callosum

3PIGU
Lim

Hypoplasia of the corpus callosum

3ABAT
Mod

Agenesis of corpus callosum

3SNAPIN

Agenesis of corpus callosum

3AP4B1
Def

Hypoplasia of the corpus callosum

3ARFGEF2
Def

Hypoplasia of the corpus callosum

3ARMC9
Def

Agenesis of corpus callosum

3COG4
Def

Hypoplasia of the corpus callosum

3ERLIN2
Def

Hypoplasia of the corpus callosum

3FBXL4
Def

Hypoplasia of the corpus callosum

3GPT2
Def

Hypoplasia of the corpus callosum

3LARGE1
Def

Agenesis of corpus callosum

3MOCS1
Def

Hypoplasia of the corpus callosum

3NANS
Def

Hypoplasia of the corpus callosum

3NARS2
Def

Agenesis of corpus callosum

3WAC
Def

Hypoplasia of the corpus callosum

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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.