Hypermobility [358 genes]

Hypermobility is defined as the ability of a joint (or a group of joints) to move, passively and/or actively, beyond normal limits along the different physiological axes.

Recommended service when hypermobility is evident, a genetic disease is suspected due to the coexistence of other clinical signs but it is not possible to direct the study towards a specific disease.

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1. Download & fill out

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2. Sample collection

Three sample types: saliva, peripheral blood or genomic DNA

3. Pack the sample

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4. Send the sample & the request

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5. Result: the report

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Hypermobility

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Technique: Exome

Turnaround time (TAT): 25 days

Ref. S-202110080

Hypermobility: View panel

Virtual panel based on whole exome sequencing, aimed at the analysis of all genes of moderate, high and low evidence related to joint hypermobility.

  • ABL1
  • ACAN
  • ADAMTS2
  • ADNP
  • AEBP1
  • AGA
  • AGRN
  • AHDC1
  • ALDH18A1
  • ALG14
  • ALG2
  • AP1G1
  • AP4B1
  • AP4E1
  • AP4M1
  • AP4S1
  • APC2
  • ARCN1
  • ARID1A
  • ARID1B
  • ARID2
  • ASPH
  • ATP6V0A2
  • ATP6V1A
  • ATP6V1E1
  • ATP7A
  • B3GALT6
  • B3GAT3
  • B3GLCT
  • B4GALT7
  • BAZ1B
  • BCL11A
  • BCL7B
  • BGN
  • BICRA
  • BMP1
  • BRAF
  • BUD23
  • C12orf4
  • C1R
  • CANT1
  • CAP2
  • CBL
  • CCDC47
  • CCNQ
  • CDC45
  • CDK19
  • CEP104
  • CHAT
  • CHD3
  • CHD7
  • CHST14
  • CLIP2
  • COL11A1
  • COL11A2
  • COL12A1
  • COL13A1
  • COL1A1
  • COL1A2
  • COL2A1
  • COL3A1
  • COL5A1
  • COL5A2
  • COL6A1
  • COL6A2
  • COL6A3
  • COL9A1
  • COL9A2
  • COL9A3
  • COMP
  • COMT
  • CREBBP
  • CSGALNACT1
  • CSNK2A1
  • CTSK
  • CUL4B
  • DCHS1
  • DCPS
  • DDB1
  • DDRGK1
  • DDX3X
  • DDX59
  • DEAF1
  • DLG4
  • DLK1
  • DNAJC30
  • DOCK3
  • DPAGT1
  • DPF2
  • DSE
  • DUSP6
  • EED
  • EFEMP2
  • EFNB1
  • EIF4H
  • ELFN1
  • ELN
  • EN1
  • EP300
  • ERMARD
  • EVC2
  • EXOC6B
  • EZH2
  • FARSA
  • FARSB
  • FAT4
  • FBLN5
  • FBN1
  • FBXL3
  • FGD1
  • FGF17
  • FGF8
  • FGFR1
  • FGFR3
  • FKBP10
  • FKBP14
  • FKBP6
  • FLNA
  • FLNB
  • FMOD
  • FMR1
  • FOCAD
  • FXR1
  • G6PC3
  • GALNS
  • GALNT2
  • GATA1
  • GATAD2B
  • GFPT1
  • GJA5
  • GJA8
  • GLB1
  • GMPPB
  • GNB2
  • GNPTAB
  • GNRH1
  • GNRHR
  • GORAB
  • GPC4
  • GRIA3
  • GTF2I
  • GTF2IRD1
  • GTF2IRD2
  • GZF1
  • H3F3A
  • H3F3B
  • HEPHL1
  • HERC1
  • HNRNPH1
  • HNRNPH2
  • HNRNPK
  • HRAS
  • HS6ST1
  • IARS
  • IFIH1
  • IFT122
  • IFT43
  • IMPAD1
  • IPO8
  • ISCA2
  • JARID2
  • KANSL1
  • KAT6B
  • KCNJ2
  • KCNJ5
  • KDM5B
  • KDM6A
  • KIF22
  • KISS1
  • KISS1R
  • KMT2A
  • KMT2D
  • KRAS
  • LIMK1
  • LONP1
  • LOX
  • LOXL3
  • LRP5
  • LRRK1
  • LTBP1
  • LTBP4
  • LUM
  • LZTR1
  • MAN1B1
  • MAN2B1
  • MAP2K1
  • MAP2K2
  • MAP3K20
  • MAP3K7
  • MAPK1
  • MARS
  • MCTP2
  • MED12
  • MEF2C
  • METTL27
  • MICU1
  • MKS1
  • MLXIPL
  • MRE11
  • MSTO1
  • MYH7
  • MYO9A
  • NANS
  • NCF1
  • NEPRO
  • NHLH2
  • NIN
  • NKAP
  • NONO
  • NOTCH2
  • NOTCH3
  • NPR2
  • NPR3
  • NRAS
  • NSD1
  • NSMF
  • NTNG2
  • ORC1
  • OTX2
  • P3H1
  • PAX2
  • PDE4D
  • PEX2
  • PHIP
  • PIEZO2
  • PIGG
  • PIGP
  • PIGS
  • PIK3CA
  • PIK3R1
  • PKD1
  • PLAGL1
  • PLOD1
  • PMM2
  • POGZ
  • POLR3GL
  • PORCN
  • PPP1R15B
  • PRDM5
  • PROK2
  • PROKR2
  • PTDSS1
  • PTEN
  • PTPN11
  • PUF60
  • PUS1
  • PYCR1
  • PYROXD1
  • RAB3GAP2
  • RAC1
  • RAC3
  • RAF1
  • RAI1
  • RAP1GDS1
  • RECQL
  • RET
  • RFC2
  • RFX3
  • RFX7
  • RIN2
  • RIT1
  • RNF125
  • ROR2
  • RTL1
  • RUSC2
  • RYR1
  • SATB2
  • SCRIB
  • SEC23A
  • SELENON
  • SERPINF1
  • SERPINH1
  • SETD2
  • SHOC2
  • SIN3A
  • SKI
  • SLC18A3
  • SLC25A1
  • SLC2A10
  • SLC35B2
  • SLC39A13
  • SLC5A7
  • SLC6A9
  • SMAD2
  • SMAD3
  • SMARCA2
  • SMARCA4
  • SMARCB1
  • SMARCC2
  • SMARCD1
  • SMARCE1
  • SMN1
  • SNAP25
  • SOBP
  • SON
  • SOS1
  • SOS2
  • SOX11
  • SOX4
  • SOX9
  • SP7
  • SPARC
  • SPRY4
  • SPTBN1
  • SRCAP
  • STAC3
  • STAG1
  • STRADA
  • STX1A
  • SYT1
  • SYT2
  • TAC3
  • TACR3
  • TAF4
  • TAOK1
  • TBL1XR1
  • TBL2
  • TBR1
  • TCTN3
  • TDO2
  • TELO2
  • TENT5A
  • TGDS
  • TGFB2
  • TGFB3
  • TGFBR1
  • TGFBR2
  • THOC2
  • THUMPD1
  • TMEM165
  • TMEM270
  • TNXB
  • TONSL
  • TPM3
  • TRIM8
  • TRIP11
  • TRIP4
  • TRMT10A
  • TRPV3
  • TRPV4
  • TTN
  • TUBB3
  • UBR1
  • UNC80
  • USB1
  • USP9X
  • VAMP1
  • VPS13B
  • VPS37D
  • WDR11
  • WDR35
  • WDR37
  • WIF1
  • XYLT1
  • YWHAG
  • YY1
  • ZMYND11
  • ZNF469

Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.

Phenotypes

Joint hypermobility