Genes associated with “STAC2

1159 genes foundOpen Targets: Rare pervasive developmental disorder9 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

Strong Candidates

1 gene
1
STAC2

SH3 and cysteine rich domain 2

21
score

SH3 AND CYSTEINE-RICH DOMAINS 2; STAC2

Frequency
-
P/LP Variants
9
OT Score
0.27

Consider

669 genes
16TBX4
Def

T-box transcription factor 4

15COL1A1
Def
15EFTUD2
Def
15HNF1B
Def
15KANSL1
Def
15NOG
Def
14AXIN2
Def
14BPTF
Def
14RAD51C
Def
14RAD51D
Def
13BRCA1
DefSF
13CAVIN1
Def
13DGKE
Def
13DNAAF19
Def
13G6PC1
Def
13G6PC3
Def
13GFAP
Def
13GOSR2
Def
13GPR179
Def
13GRN
Def
13ITGA2B
Def
13ITGA3
Def
13ITGB3
Def
13MKS1
Def
13NAGLU
Def
13NAGS
Def
13NF1
Def
13ODAD4
Def
13PEX12
Def
13PGAP3
Def
13PNPO
Def
13RNF43
Def
13SGCA
Def
13SMARCE1
Def
13SOX9
Def
13SPOP
Def
13STAT3
Def
13STAT5B
Def
13TAOK1
Def
13TCAP
Def
13TUBG1
Def
13UBTF
Def

seizure related 6 homolog

12ACE
Def
12BRIP1
Def
12CD79B
Def
12LIG3
Def
12MED13
Def
12PPM1D
Def
12PSMD12
Def
12SCN4A
Def
12SMG8
Def
12TACO1
Def
12TANC2
Def
12TLK2
Def
12TRIM37
Def
12GAS2L2
Mod
12IKZF3
Mod
12MAP3K14
Mod
12PCGF2
Str
12PLEKHM1
Mod
12SLFN14
Mod

calcium binding and coiled-coil domain 2

11SHANK2
Def

SH3 and multiple ankyrin repeat domains 2

11DLG4
Def
11PMP22
Def
11RAI1
Def
11TP53
DefSF

ARF like GTPase 16

11RGS9
Mod
11CDC6
Lim
11COA3
Lim
11COX11
Lim
11DNAI2
Def
11DNAJC7
Lim
11FDXR
Def
11FOXN1
Def
11KCNJ16
Def
11NEK8
Def
11PHF12
Def
11PIGS
Def
11PIGW
Lim
11PRKAR1A
Def
11TAF15
Lim
11USH1G
Def
10RPS6KB1
Lim
10COG1
Mod
10KCNJ2
Mod
10NSRP1
Mod
10SP2
10SP6
10VEZF1
No
9ACADVL
Def
9ACOX1
Def
9ACTG1
Def
9AIPL1
Def
9ASPA
Def
9B9D1
Def
9C1QBP
Def
9CANT1
Def
9CCDC40
Def
9CHD3
Def
9CHRNB1
Def
9COX10
Def
9CTC1
Def
9CTNS
Def
9DNAH17
Def
9DNAH9
Def
9DPH1
Def
9ELAC2
Def
9FLCN
Def
9FOXJ1
Def
9GAA
DefSF
9GALK1
Def
9GP1BA
Def
9GUCY2D
Def
9KDM6B
Def
9MPDU1
Def
9MYH10
Def
9MYH2
Def
9MYO15A
Def
9PDE6G
Def
9PFN1
Def
9PIGL
Def
9POLR2A
Def
9PRPF8
Def
9PYCR1
Def
9RHBDF2
Def
9SCO1
Def
9SGSH
Def
9TBCD
Def
9TMEM94
Def
9TTC19
Def
9UNC13D
Def
9TMEM98
Lim
8EXOC7
Mod
8FLII
Mod
8WRAP53
Mod
8SLC6A4
Dis

Possible

475 genes — click to expand
8RYR2
DefSF

ryanodine receptor 2

ubiquitin conjugating enzyme E2 G1

7ATPAF2
Lim
7GRAP
Lim
7MIEF2
Lim
7MRPS7
Lim
7NPTX1
Lim
7RPA1
Lim
7TIMM22
Lim
7WBP2
Lim
7SPTBN1
Str

spectrin beta, non-erythrocytic 1

7HSPG2
Def

heparan sulfate proteoglycan 2

7POC1B
Def

POC1 centriolar protein B

7RELA
Def

RELA proto-oncogene, NF-kB subunit

solute carrier family 35 member A3

6MYO1C
Dis
6PIK3R5
Dis
6RANGRF
Ref
6RBFOX3
Dis
6TEKT1
Dis
6SCN1A
Def

sodium voltage-gated channel alpha subunit 1

6PHEX
Def

phosphate regulating endopeptidase X-linked

microtubule associated serine/threonine kinase 3

pseudouridine synthase 7

5STAC3
Def

Congenital myopathy 13

Osteopetrosis, autosomal recessive 2

4PAX1
Def

paired box 1

UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6

F-box and WD repeat domain containing 7

FRAS1 related extracellular matrix 2

polypeptide N-acetylgalactosaminyltransferase 4

G protein-coupled receptor 153

GTF2I repeat domain containing 1

integrin subunit alpha 6

NLR family pyrin domain containing 12

PDZ domain containing ring finger 3

PR/SET domain 15

prostaglandin I2 synthase

tau tubulin kinase 1

4GABRA1
Def

gamma-aminobutyric acid type A receptor subunit alpha1

4SCN8A
Def

sodium voltage-gated channel alpha subunit 8

ribonuclease H2 subunit C

3PRG4
Def

proteoglycan 4

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