Genes associated with “abnormal corpus callosum morphology”

Diagnostic yield calculator →
232 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
CDH2 →

cadherin 2

32
score
ClinGen: DefinitiveGTR ↑

Agenesis of corpus callosum

Frequency
78%
n=9
P/LP Variants
-
OT Score
0.51
2
DCC →

DCC netrin 1 receptor

31
score
ClinGen: DefinitiveGTR ↑

Agenesis of corpus callosum

Frequency
100%
n=4
P/LP Variants
-
OT Score
0.52
3
COL4A1 →

collagen type IV alpha 1 chain

28
score
ClinGen: DefinitiveP2G #3GTR ↑
Frequency
-
P/LP Variants
1
OT Score
0.41
4
RAB3GAP1 →

RAB3 GTPase activating protein catalytic subunit 1

28
score
ClinGen: DefinitivePanel: Green ↑P2G #22GTR ↑

Hypoplasia of the corpus callosum

Frequency
67%
n=3
P/LP Variants
1
OT Score
0.33
5
25
score
ClinGen: DefinitivePanel: Green ↑P2G #6GTR ↑

Hypoplasia of the corpus callosum

Frequency
33%
n=12
P/LP Variants
-
OT Score
-
6
24
score
ClinGen: DefinitivePanel: Green ↑GTR ↑

Hypoplasia of the corpus callosum

Frequency
18%
n=11
P/LP Variants
1
OT Score
-
7
CREBBP →

CREB binding lysine acetyltransferase

24
score
ClinGen: DefinitivePanel: Green ↑GTR ↑
Frequency
-
P/LP Variants
-
OT Score
0.34
8
KANSL1 →

KAT8 regulatory NSL complex subunit 1

24
score
ClinGen: DefinitivePanel: Green ↑P2G #35GTR ↑
Frequency
-
P/LP Variants
-
OT Score
0.27
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
22RAB18
ModP:G#18

Hypoplasia of the corpus callosum

21GLI2
P:G

Partial agenesis of the corpus callosum

20RAB3GAP2
DefP:G

Hypoplasia of the corpus callosum

Consider

53 genes
20L1CAM
Def

Agenesis of corpus callosum

19SETD2
Def

Hypoplasia of the corpus callosum

19ASXL1
Def

ASXL transcriptional regulator 1

19TUBA1A
Def

Hypoplasia of the corpus callosum

17UBE3A
Def

ubiquitin protein ligase E3A

16NSD1
Def#19

Partial agenesis of the corpus callosum

16ARID1B
Def

AT-rich interaction domain 1B

15DHCR24
Def#8

Agenesis of corpus callosum

15FGFR1
DefP:G

Agenesis of corpus callosum

15ARX
Def

aristaless related homeobox

15SUPT16H

Thin corpus callosum

15NFIX
Def#17

nuclear factor I X

15ERCC5
Def

ERCC excision repair 5, endonuclease

14OFD1
DefP:G

Agenesis of corpus callosum

13POLR1A
P:G

Thin corpus callosum

13MED12
Def

Partial agenesis of the corpus callosum

13ACCPN

AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY; ACCPN

13CCAFCA

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

13NEDEHCC

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

13NEDFCF

NEURODEVELOPMENTAL DISORDER WITH FEEDING DIFFICULTIES, THIN CORPUS CALLOSUM, AND FOOT DEFORMITY; NEDFCF

13NEDTCHAL

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

13SPATCCM

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

13FOXG1
Def

forkhead box G1

13PORCN
DefP:R

Agenesis of corpus callosum

12SOX2
P:G

Hypoplasia of the corpus callosum

12ERCC2
Def

ERCC excision repair 2, TFIIH core complex helicase subunit

12SPG11
Def#11

SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE; SPG11

12PTCH1
Def

Agenesis of corpus callosum

11DROSHA

drosha ribonuclease III

11VPS11
Def

Hypoplasia of the corpus callosum

10FLNA
Def

filamin A

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

10PIDD1
Def

p53-induced death domain protein 1

10SMARCC1
Def

SWI/SNF related BAF chromatin remodeling complex subunit C1

10FIG4
Def

Hypoplasia of the corpus callosum

9C12ORF57
9GCSH
Def

Hypoplasia of the corpus callosum

9OPHN1
Def

oligophrenin 1

9ADNP
Def

activity dependent neuroprotector homeobox

9MID1
Def

Agenesis of corpus callosum

9DDX3X
Def

Hypoplasia of the corpus callosum

9GPC3
Def

Agenesis of corpus callosum

9PAK3
Def

p21 (RAC1) activated kinase 3

9POMT2
Def

Agenesis of corpus callosum

8PPP2R1A
Def

Agenesis of corpus callosum

8NDE1
Def

Agenesis of corpus callosum

8CEP85L
Def

centrosomal protein 85L

8CSTB
Def

cystatin B

8GRIN1
Def

Hypoplasia of the corpus callosum

8TBCE
ModP:G

Hypoplasia of the corpus callosum

Possible

112 genes — click to expand
8CC2D2A
Def

Agenesis of corpus callosum

8SPTAN1
Def

Hypoplasia of the corpus callosum

8PAX6
DefP:R

Hypoplasia of the corpus callosum

8POMT1
Def

Hypoplasia of the corpus callosum

7APC2
Str

Hypoplasia of the corpus callosum

7CRIPT
P:G

Hypoplasia of the corpus callosum

7PDHX
Def

Partial agenesis of the 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

7USP9X
Def

Hypoplasia of the corpus callosum

7AHDC1
Def

Abnormal corpus callosum morphology

7MINPP1
Def

Thin corpus callosum

7RERE
Def

Hypoplasia of the corpus callosum

7RPGRIP1L
Def

Abnormal corpus callosum morphology

6KCNT1
Def

Hypoplasia of the corpus callosum

6ATP8A2
Def

Corpus callosum atrophy

6CEP290
Def

Hypoplasia of the corpus callosum

6ADD1

adducin 1

6DYRK1A
Def

Thin corpus callosum

6PIK3R2
Def

Thick corpus callosum

6ACTB
Def

Agenesis of corpus callosum

6HSD17B4
Def

Hypoplasia of the corpus callosum

6HESX1
P:G

Agenesis of corpus callosum

6HSPA9
P:G

Agenesis of corpus callosum

6DNAH7
Lim

dynein axonemal heavy chain 7

6GJC2
Def

Hypoplasia of the corpus callosum

6MAP1B
Str

microtubule associated protein 1B

6FTH1
Mod

Thin corpus callosum

6CDC42
Def

Hypoplasia of the corpus callosum

6PSAP
Def

Hypoplasia of the corpus callosum

6ACTG1
Def

Agenesis of corpus callosum

6CACNA2D1
Dis

calcium voltage-gated channel auxiliary subunit alpha2delta 1

6RNF220

ring finger protein 220

6SHROOM4
Dis

shroom family member 4

5ATG7
Str

Posterior atrophy of corpus callosum

5AP5Z1
Def

Thin corpus callosum

5VARS1
Def

Hypoplasia of the corpus callosum

5HERC2

HECT and RLD domain containing E3 ubiquitin protein ligase 2

5KIF2A

Thin corpus callosum

5TAF8

TATA-box binding protein associated factor 8

5TRA2B
Def

Thin corpus callosum

5AMC4

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

5CUL4B
Def

Hypoplasia of the corpus callosum

5ZBTB18
Def

Agenesis of corpus callosum

5ASNS
Def

Thin corpus callosum

5DOCK7
Def

Hypoplasia of the corpus callosum

5NONO
Def

Thick corpus callosum

5SLC1A2
Def

Hypoplasia of the corpus callosum

5BCL11B
Def

Agenesis of corpus callosum

5CLCN4
Def

Hypoplasia of the corpus callosum

5FAT4
Def

Hypoplasia of the corpus callosum

5FDXR
Def

Thin corpus callosum

5FLVCR1
Def

Thin corpus callosum

5MOCS2
Def

Thin corpus callosum

5NDUFA2
Def

Hypoplasia of the corpus callosum

5NMNAT1
Def

Hypoplasia of the corpus callosum

5PIGA
Def

Aplasia/Hypoplasia of the corpus callosum

5SCO2
Def

Abnormal corpus callosum morphology

5TARS2
Def

Hypoplasia of the corpus callosum

5TBC1D32
Def

Agenesis of corpus callosum

5GOT2
Mod

Hypoplasia of the corpus callosum

4SCN3A
Def

Hypoplasia of the corpus callosum

4DARS1

Hypoplasia of the corpus callosum

4BRAT1
Def

Thin corpus callosum

4ECHS1
Def

Thin corpus callosum

4PIGL
Def

Thin corpus callosum

4GLB1
Def

Thin corpus callosum

4NFIB
Def

Thin corpus callosum

4POU3F3
Def

Hypoplasia of the corpus callosum

4FZD3

frizzled class receptor 3

4SLC12A6

solute carrier family 12 member 6

4BIVM-ERCC5
4SNHG14
4AP3B2
Def

Hypoplasia of the corpus callosum

4SMARCC2
Def

Thin corpus callosum

4SNAP29

Abnormal corpus callosum morphology

4ALG2
Str

Thin corpus callosum

4WARS1
Lim

Dysplastic corpus callosum

4SLC4A10
Str

Thin corpus callosum

4MED27
Def

Thin corpus callosum

4AAR2

AAR2 splicing factor

4CSF1R
Def

Agenesis of corpus callosum

4PEX2
Def

Agenesis of corpus callosum

4UNC80
Def

Hypoplasia of the corpus callosum

4WDR45B

Hypoplasia of the corpus callosum

4DCHS1
Mod

Hypoplasia of the corpus callosum

4KLHL20
Mod

Thin corpus callosum

4RAP1B
Mod

Thin corpus callosum

4ATP1A2
Def

Thin corpus callosum

4COG6
Def

Hypoplasia of the corpus callosum

4CRPPA
Def

Partial agenesis of the corpus callosum

4RTTN
Def

Agenesis of corpus callosum

4YIF1B
Def

Hypoplasia of the corpus callosum

4OTUD5
Mod

Hypoplasia of the corpus callosum

4PRORP
Def

Dysplastic corpus callosum

4GAD1
Def

Hypoplasia of the corpus callosum

4TNR
Def

Thin corpus callosum

3NAE1

Hypoplasia of the corpus callosum

3RAB11B

Thin corpus callosum

3UGGT1

Thin corpus callosum

3PIGB
Mod

Hypoplasia of the corpus callosum

3CNTNAP2
Def

Thick corpus callosum

3AIFM1
Def

Hypoplasia of the corpus callosum

3ARMC9
Def

Agenesis of corpus callosum

3FBXL4
Def

Hypoplasia of the corpus callosum

3MOCS1
Def

Hypoplasia of the corpus callosum

3PEX1
Def

Aplasia/Hypoplasia of the corpus callosum

3RMND1
Def

Hypoplasia of the corpus callosum

3SLC25A24
Def

Hypoplasia of the corpus callosum

3TBCK
Def

Dysplastic 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.