Genes associated with “TRU-TCA2-1

500 genes found20 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
hover for details

Consider

233 genes
15SHANK3
Def
15TCF20
Def
14EP300
Def
14TNRC6B
Def
13A4GALT
Def
13ALG12
Def
13ARSA
Def
13CYB5R3
Def
13MLC1
Def
13NAGA
Def
13SCO2
Def
13SOX10
Def
13TRMU
Def
13TUBGCP6
Def
13TYMP
Def
12ACO2
Def
12ADSL
Def
12XPNPEP3
Def
12NDUFA6
Mod
12SBF1
Mod
11CHEK2
Def
11NF2
DefSF
11SMARCB1
Def
11MCAT
Lim
11NUP50
Lim
11PLA2G6
Def
11TMPRSS6
Def
11TRIOBP
Def
10CPT1B
No
10IL2RB
Mod
10RAC2
Str
10UPK3A
Dis
9ADA2
Def
9AP1B1
Def
9APOL1
Def
9CDC45
Def
9CSF2RB
Def
9DEPDC5
Def
9GP1BB
Def
9HPS4
Def
9IFT27
Def
9LARGE1
Def
9LZTR1
DefSF
9MN1
Def
9MORC2
Def
9MYH9
Def
9MYO18B
Def
9NEFH
Def
9PEX26
Def
9PRODH
Def
9TCN2
Def
9TIMP3
Def
8HMOX1
Str
8IGLL1
Mod
8PISD
Mod
8RBFOX2
Str

Possible

267 genes — click to expand
7CACNG2
Lim
6CRKL
No
6EWSR1
Dis
6MPST
No
6TUBA8
Dis

Data aggregated from HPO/Monarch, ClinVar, OMIM (phenotypes + clinical synopsis), Open Targets, PanelApp, Phen2Gene, and Gene2Phenotype. Click a gene to view full details.