Genes associated with “abnormal corpus callosum morphology”

Diagnostic yield calculator →
240 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
COL4A1 →

collagen type IV alpha 1 chain

28
score
ClinGen: DefinitiveP2G #3GTR ↑
Frequency
-
P/LP Variants
1
OT Score
0.41
2
DCC →

DCC netrin 1 receptor

28
score
ClinGen: DefinitiveGTR ↑

Agenesis of corpus callosum

Frequency
-
P/LP Variants
-
OT Score
0.52
3
CDH2 →

cadherin 2

27
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
-
OT Score
0.51
4
RAB3GAP1 →

RAB3 GTPase activating protein catalytic subunit 1

25
score
ClinGen: DefinitivePanel: Green ↑P2G #22GTR ↑
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
CREBBP →

CREB binding lysine acetyltransferase

24
score
ClinGen: DefinitivePanel: Green ↑GTR ↑
Frequency
-
P/LP Variants
-
OT Score
0.34
7
KANSL1 →

KAT8 regulatory NSL complex subunit 1

24
score
ClinGen: DefinitivePanel: Green ↑P2G #35GTR ↑
Frequency
-
P/LP Variants
-
OT Score
0.27
8
23
score
ClinGen: DefinitivePanel: Green ↑P2G #43GTR ↑

Agenesis of corpus callosum

Frequency
100%
n=5
P/LP Variants
-
OT Score
-
9
HUWE1 →

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

22
score
ClinGen: DefinitiveGTR ↑

Hypoplasia of the corpus callosum

Frequency
10%
n=21
P/LP Variants
1
OT Score
0.27
21GLI2
P:G

Partial agenesis of the corpus callosum

21FGFR2
DefP:G#12

Agenesis of corpus callosum

20SLC1A4
Def

Thin corpus callosum

Consider

52 genes
20L1CAM
Def

Agenesis of corpus callosum

19ASXL1
Def

ASXL transcriptional regulator 1

19SHH
Def#5

sonic hedgehog signaling molecule

17NSD1
Def#19

Thin corpus callosum

17KMT2D
DefP:G×2

Hypoplasia of the corpus callosum

17UBE3A
Def

ubiquitin protein ligase E3A

16ERCC5
Def

Agenesis of corpus callosum

16POGZ
Def

Thin corpus callosum

16NFIX
Def#17

Agenesis of corpus callosum

16ARID1B
Def

AT-rich interaction domain 1B

15LRP2
No #2

Agenesis of corpus callosum

15ARX
Def

aristaless related homeobox

14SPG11
Def#11

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

13CCAFCA

CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA; CCAFCA

13NEDDFAC

NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC

13NEDEHCC

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

13NEDGFC

NEURODEVELOPMENTAL DISORDER WITH GROWTH RETARDATION, DYSMORPHIC FACIES, AND CORPUS CALLOSUM ABNORMALITIES; NEDGFC

13NEDSSCC

NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM; NEDSSCC

13NEDTCHAL

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

13FOXG1
Def

forkhead box G1

12SOX2
P:G

Hypoplasia of the corpus callosum

12MED12
Def

mediator complex subunit 12

12KRAS
DefP:G

Aplasia/Hypoplasia of the corpus callosum

12ERCC2
Def

ERCC excision repair 2, TFIIH core complex helicase subunit

12RAI1
Def#9

Hypoplasia of the corpus callosum

11DROSHA

drosha ribonuclease III

10SIX3
#4

Agenesis of corpus callosum

10FLNA
Def

filamin A

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

10CTNNB1
Def

Hypoplasia of the corpus callosum

10ALDH18A1
DefP:G

Corpus callosum atrophy

10TUBA1A
Def

tubulin alpha 1a

10RNU4ATAC
DefP:G

Partial agenesis of the corpus callosum

9C12ORF57
9PPP2R1A
Def

Hypoplasia of the corpus callosum

9MAP2K1
DefP:G

Aplasia/Hypoplasia of the corpus callosum

9OPHN1
Def

oligophrenin 1

9ADNP
Def

activity dependent neuroprotector homeobox

9PAK3
Def

p21 (RAC1) activated kinase 3

9POMT2
Def

Agenesis of corpus callosum

8POMT1
Def

Hypoplasia of the corpus callosum

8CEP85L
Def

centrosomal protein 85L

8CSTB
Def

cystatin B

8TBCE
ModP:G

Hypoplasia of the corpus callosum

Possible

109 genes — click to expand
8SLC12A6

Agenesis of corpus callosum

8MTOR
Def

Hypoplasia of the corpus callosum

8MLH1
DefSF

Agenesis of corpus callosum

7CDK5
Mod

Agenesis of corpus callosum

7FKTN
Def

Agenesis of corpus callosum

7PEX5
Def
7AP4M1
Def

adaptor related protein complex 4 subunit mu 1

7MAGED2
Def

MAGE family member D2

6EML1
Def

Agenesis of corpus callosum

6RAB23
Def

Aplasia/Hypoplasia of the corpus callosum

6ZSWIM6
Def

Tubulonodular pericallosal lipoma

6LMNB1
Def

Dysplastic corpus callosum

6ADD1

adducin 1

6EARS2
Def

Hypoplasia of the corpus callosum

6HSD17B4
Def

Hypoplasia of the corpus callosum

6ZBTB20
Def

Hypoplasia of the corpus callosum

6DNAH7
Lim

dynein axonemal heavy chain 7

6ASXL3
Def

Hypoplasia of the corpus callosum

6MACF1
Mod

Hypoplasia of the corpus callosum

6MAP1B
Str

microtubule associated protein 1B

6NOTCH3
Def

Thin corpus callosum

6DDHD2

Hypoplasia of the corpus callosum

6SON
Def

Hypoplasia of the corpus callosum

6MYT1L
Def

Thin corpus callosum

6SIX6

Hypoplasia of the corpus callosum

6TMEM106B
Def

Hypoplasia of the corpus callosum

6CACNA2D1
Dis

calcium voltage-gated channel auxiliary subunit alpha2delta 1

6RNF220

ring finger protein 220

6SHROOM4
Dis

shroom family member 4

6SUPT16H

SPT16 homolog, facilitates chromatin remodeling subunit

5AP5Z1
Def

Thin corpus callosum

5DAG1
Def

Hypoplasia of the corpus callosum

5EIF2B4
Def

Corpus callosum atrophy

5KDM6B
Def

Thin corpus callosum

5TCF12
Def

Partial agenesis of the corpus callosum

5YARS1
Def

Hypoplasia of the corpus callosum

5CTCF
Def

Thin corpus callosum

5HERC2

HECT and RLD domain containing E3 ubiquitin protein ligase 2

5TAF8

TATA-box binding protein associated factor 8

5ALX4
Def

Hypoplasia of the corpus callosum

5DCX
Def

Agenesis of corpus callosum

5MCCCHCM

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

5WDR26
Def

Hypoplasia of the corpus callosum

5PPP1R21
Def

Hypoplasia of the corpus callosum

5PYCR1
Def

Agenesis of corpus callosum

5TRAPPC9
Def

Hypoplasia of the corpus callosum

5CENPE
Lim

Partial agenesis of the corpus callosum

5SHMT2
Lim

Hypoplasia of the corpus callosum

5GABRA1
Def

Thin corpus callosum

5GNAO1
Def

Hypoplasia of the corpus callosum

5KIF5A
Def

Hypoplasia of the corpus callosum

5MOCS2
Def

Thin corpus callosum

5SCO2
Def

Abnormal corpus callosum morphology

5TBC1D32
Def

Partial agenesis of the corpus callosum

5VPS13B
Def

Thick corpus callosum

5WWOX
Def

Hypoplasia of the corpus callosum

5LAMB1
Mod

Hypoplasia of the corpus callosum

4KIF26A
Str

Hypoplasia of the corpus callosum

4GRM7

Hypoplasia of the corpus callosum

4TTC5

Corpus callosum atrophy

4ASNS
Def

Hypoplasia of the corpus callosum

4KCTD7
Def

Hypoplasia of the corpus callosum

4CNTNAP2
Def

Thin corpus callosum

4GRIK2
Def

Thin corpus callosum

4FZD3

frizzled class receptor 3

4TMEM147

Thin corpus callosum

4BIVM-ERCC5
4SNHG14
4CNOT3
Def

Hypoplasia of the corpus callosum

4SLC25A1
Def

Agenesis of corpus callosum

4HIVEP2

Hypoplasia of the corpus callosum

4KDM4B
Str

Agenesis of corpus callosum

4MED27
Def

Thin corpus callosum

4AAR2

AAR2 splicing factor

4PGBD5

Thin corpus callosum

4CTNNA2

Hypoplasia of the corpus callosum

4SPOUT1

Thin corpus callosum

4TUBB2B
Def

Hypoplasia of the corpus callosum

4IFT52
Mod

Hypoplasia of the corpus callosum

4KLHL20
Mod

Thin corpus callosum

4PDE6D
Mod

Hypoplasia of the corpus callosum

4RAP1B
Mod

Thin corpus callosum

4LRPPRC
Def

Partial agenesis of the corpus callosum

4RTTN
Def

Agenesis of corpus callosum

4CDK13
Def

Hypoplasia of the corpus callosum

4GNPTAB
Def

Thin corpus callosum

4IRF2BPL
Def

Corpus callosum atrophy

4LIG3
Def

Thin corpus callosum

4ARHGAP31

Hypoplasia of the corpus callosum

4TNR
Def

Partial agenesis of the corpus callosum

3CCND2
Def

Thick corpus callosum

3AFG2A
Def

Hypoplasia of the corpus callosum

3POLR2A
Def

Agenesis of corpus callosum

3EPRS1

Hypoplasia of the corpus callosum

3PIGH
Lim

Dysplastic corpus callosum

3RALGAPA1

Hypoplasia of the corpus callosum

3PIGB
Mod

Hypoplasia of the corpus callosum

3PDHB
Mod

Agenesis of corpus callosum

3OTUD5
Mod

Agenesis of corpus callosum

3CACNA1E
Def

Corpus callosum atrophy

3EIF2S3
Def

Hypoplasia of the corpus callosum

3FLCN
Def

Hypoplasia of the corpus callosum

3FLVCR2
Def

Agenesis of corpus callosum

3MAG
Def

Corpus callosum atrophy

3MOCS1
Def

Hypoplasia of the corpus callosum

3MOGS
Def

Hypoplasia of the corpus callosum

3POLR3A
Def

Agenesis of corpus callosum

3UBE3B
Def

Hypoplasia of the corpus callosum

3ZMIZ1
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.