Genes associated with “stereotypies”

189 genes foundOpen Targets: autism spectrum disorder due to AUTS2 deficiency1606 ClinVar P/LP variants
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
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Strong Candidates

2 genes
1
AUTS2 →

activator of transcription and developmental regulator AUTS2

20
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
-
OT Score
0.75
2
20
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
44
OT Score
-

Consider

21 genes
19CASK
Def
19DLG4
Def
19FOXG1
Def
19RAI1
Def
19WDR26
Def
17CDK13
Def
16SLC6A1
15DDX3X
Def
13KPTN
Def
12MECP2
Def

{Autism susceptibility, X-linked 3}

11NYX
Def
11VHL
DefSF
10GPR34
10GPR82
9ATP2B2
Def
9FANCD2
Def
9BRPF1
Def
9CHD2
Def
9SCN2A
Def
9KMT2D
Def

lysine methyltransferase 2D

8RYR1
DefSF

ryanodine receptor 1

Possible

153 genes — click to expand
7CRELD1
Lim
7ACTB
Def
7B9D1
Def
7DNAH5
Def
7FLCN
Def
7MTRR
Def
7MYO15A
Def
7NDUFS6
Def
7NSUN2
Def
7SDHA
Def
7SLC1A4
Def
7SLC6A19
Def
7SLC6A3
Def
7TERT
Def
7TNFRSF13B
Def
7WDR62
Def
6BRK1
6CNIH4
6EMC3
6FANCD2OS
6GHRLOS
6IL17RC
6IRAK2
6PRRT3
6SEC13
6SLC6A11
6TATDN2
6FLII
Mod
5NIPBL
Def

NIPBL cohesin loading factor

5CTNNB1
Def

catenin beta 1

5ATPAF2
Lim
5CRSDS

CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE; CRSDS

5DEE11

DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 11; DEE11

5DEE66

DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 66; DEE66

5GPIBD11

GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11; GPIBD11

5GRAP
Lim
5IDDSSAD

INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS; IDDSSAD

5IRX4
Lim
5MIEF2
Lim
5MRD63

INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD63

5MRT58

INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 58; MRT58

5MRXSPF

INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF

5ODLURO

O'DONNELL-LURIA-RODAN SYNDROME; ODLURO

5PILBOS

PILAROWSKI-BJORNSSON SYNDROME; PILBOS

5POPCHAS

POPOV-CHANG SYNDROME; POPCHAS

5PRKD1
Lim
5TARDBP
Def

Amyotrophic lateral sclerosis 10, with or without FTD

5VEODS

VAN ESCH-O'DRISCOLL SYNDROME; VEODS

5XLID41

INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 41; XLID41

4ADAMTS16
4ADAMTS16-DT
4ADCY2
4AKAP10
4ALDH3A1
4ALDH3A2
4ALKBH5
4ANKRD33B
4ARPC4
4ARPC4-TTLL3
4ATPSCKMT
4BRD9
4CAMK1
4CCDC127
4CCT5
4CEP72
4CEP72-DT
4CFAP90
4CIDEC
4CLPTM1L
4CNIH3
4COPS3
4CPNE9
4CTD-2154B17.1
4CTD-2194D22.4
4CTNND2
4DAP-DT
4DRC3
4DRG2
4EPN2
4EVPLL
4EXOC3
4FAM83G
4FASTKD3
4FBXW10
4GID4
4GRAPL
4ICE1
4IL17RE
4IRX1
4IRX2
4IRX2-DT
4JAGN1
4LGALS9C
4LLGL1
4LPCAT1
4LRRC14B
4LSINCT5
4MAPK7
4MARCHF6
4MARCHF6-DT
4MED10
4MED9
4MFAP4
4MNS16A
4MPRIP
4MRPL36
4MTMR14
4NKD2
4NT5M
4OGG1
4PDCD6
4PDCD6-AHRR
4PDCD6-DT
4PLD6
4PLEKHG4B
4PRPSAP2
4RASD1
4RNF112
4ROPN1L
4RPUSD3
4SEMA5A
4SHMT1
4SLC12A7
No
4SLC47A1
4SLC47A2
4SLC5A10
4SLC6A18
4SLC9A3
4SLC9A3-OT1
4SMCR8
4SNHG18
4SPECC1
4SRD5A1
4SREBF1
4TADA3
4TAS2R1
4TBC1D28
4TENT4A
4TERLR1
4TOM1L2
4TOP3A
4TRIM16L
4TRIP13
4TTLL3
4TVP23B
4UBE2QL1
4ULK2
4WNK3
4ZDHHC11
4ZDHHC11B
3ALX1
Def

ALX homeobox 1

3SLC39A13
Def

solute carrier family 39 member 13

3SIX1
Def

SIX homeobox 1

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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.