Genes associated with “abnormal corpus callosum morphology”

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205 genes foundHPO: Abnormal corpus callosum morphology3 PanelApp panels
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

5 genes
1
23
score
ClinGen: DefinitivePanel: Green ↑P2G #43GTR ↑

Agenesis of corpus callosum

Frequency
100%
n=5
P/LP Variants
-
OT Score
-
2
22
score
ClinGen: DefinitivePanel: Green ↑GTR ↑
Frequency
-
P/LP Variants
1
OT Score
-
3
21
score
ClinGen: DefinitiveP2G #3GTR ↑
Frequency
-
P/LP Variants
1
OT Score
-
4
21
score
ClinGen: DefinitivePanel: Green ↑P2G #12GTR ↑

Agenesis of corpus callosum

Frequency
11%
n=36
P/LP Variants
-
OT Score
-
5
20
score
ClinGen: DefinitiveGTR ↑

Agenesis of corpus callosum

Frequency
-
P/LP Variants
-
OT Score
-

Consider

28 genes
19RAB3GAP1
DefP:G
17KMT2D
DefP:G×2

Hypoplasia of the corpus callosum

17HUWE1
Def

Hypoplasia of the corpus callosum

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

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

13ASXL1
Def
12NSD1
Def#19

Thin corpus callosum

12SOX2
P:G

Hypoplasia of the corpus callosum

12KRAS
DefP:G

Aplasia/Hypoplasia of the corpus callosum

12RAI1
Def#9

Hypoplasia of the corpus callosum

11ERCC5
Def

Agenesis of corpus callosum

11MAST1

Thick corpus callosum

11NFIX
Def#17

Agenesis of corpus callosum

10SIX3
#4

Agenesis of corpus callosum

10CTNNB1
Def

Hypoplasia of the corpus callosum

10ALDH18A1
DefP:G

Corpus callosum atrophy

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

9POMT2
Def

Agenesis of corpus callosum

8POMT1
Def

Hypoplasia of the corpus callosum

8GRM7

Hypoplasia of the corpus callosum

Possible

102 genes — click to expand
8MTOR
Def

Hypoplasia of the corpus callosum

8L1CAM
Def

Agenesis of corpus callosum

8MLH1
DefSF

Agenesis of corpus callosum

7CDK5
Mod

Agenesis of corpus callosum

7FKTN
Def

Agenesis of corpus callosum

7PEX5
Def
7UBE3A
Def
6EML1
Def

Agenesis of corpus callosum

6RAB23
Def

Aplasia/Hypoplasia of the corpus callosum

6ZSWIM6
Def

Tubulonodular pericallosal lipoma

6LMNB1
Def

Dysplastic corpus callosum

6BCAS3

Thin corpus callosum

6EARS2
Def

Hypoplasia of the corpus callosum

6ZBTB20
Def

Hypoplasia of the corpus callosum

6GPSM2
Def

Hypoplasia of the corpus callosum

6ASXL3
Def

Hypoplasia of the corpus callosum

6MACF1
Mod

Hypoplasia of the corpus callosum

6ADCY5
Def

Thin corpus callosum

6DDHD2

Hypoplasia of the corpus callosum

6SON
Def

Hypoplasia of the corpus callosum

6SIX6

Hypoplasia of the corpus callosum

5AP5Z1
Def

Thin corpus callosum

5DAG1
Def

Hypoplasia of the corpus callosum

5NT5C2
Def

Thin corpus callosum

5TCF12
Def

Partial agenesis of the corpus callosum

5YARS1
Def

Hypoplasia of the corpus callosum

5CTCF
Def

Thin corpus callosum

5ALX4
Def

Hypoplasia of the corpus callosum

5DCX
Def

Agenesis of corpus callosum

5SIN3A
Def

Hypoplasia of the corpus callosum

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

5TUBG1
Def

Thick corpus callosum

5CENPE
Lim

Partial agenesis of the corpus callosum

5SHMT2
Lim

Hypoplasia of the corpus callosum

5GABRA1
Def

Thin corpus callosum

5GTPBP2
Def

Agenesis of corpus callosum

5SCO2
Def

Abnormal corpus callosum morphology

5TBC1D32
Def

Partial agenesis of the corpus callosum

5UBTF
Def

Hypoplasia of the corpus callosum

5VPS13B
Def

Thick corpus callosum

5WWOX
Def

Hypoplasia of the corpus callosum

5LAMB1
Mod

Hypoplasia of the corpus callosum

5UNC13A
Def

Thin corpus callosum

4OTUD6B
Def

Hypoplasia of the corpus callosum

4KIF26A
Str

Hypoplasia of the corpus callosum

4TTC5

Corpus callosum atrophy

4ASNS
Def

Hypoplasia of the corpus callosum

4DEPDC5
Def

Thin corpus callosum

4KCTD7
Def

Hypoplasia of the corpus callosum

4KDM6B
Def

Agenesis of corpus callosum

4CNTNAP2
Def

Thin corpus callosum

4GRIK2
Def

Thin corpus callosum

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

4SLC4A10
Str

Thin corpus callosum

4MED27
Def

Thin corpus callosum

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

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

4SYNJ1
Def

Thin corpus callosum

4ARHGAP31

Hypoplasia of the corpus callosum

4TNR
Def

Thin corpus callosum

3CCND2
Def

Thick corpus callosum

3KDM3B
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

3ACTL6B

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

3MOCS2
Def

Hypoplasia of the corpus callosum

3MOGS
Def

Hypoplasia of the corpus callosum

3PNKP
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.