Connective Tissue Gene Tests' Spondylo-Epi-Metaphyseal dysplasias NGS panel consists of fifty-one genes. It covers various chondrodysplasias with significant spinal, epiphyseal and/or metaphyseal involvement.
The Spondylo-Epi-Metaphyseal dysplasias NGS panel consists of fifty-one genes: ACP5, B3GALT6, B3GAT3, BGN, C21orf2, CANT1, CHST3, COL2A1, COL9A1, COL9A2, COL9A3, COL10A1, COL11A1, COL11A2, COMP, DYM, DDR2, EIF2AK3, FGFR3, FLNB, GPX4, HSPG2, IHH, IMPAD1, INPPL1, KIF22, LIFR, LONP1, MATN3, MMP9, MMP13, NANS, NEK1, NKX3-2, NPR2, PAPSS2, PAM16, PCYT1A, PTH1R, RAB33B, RMRP, RNU4ATAC, RSPRY1, RUNX2, SBDS, SLC26A2, SMARCAL1, TRAPPC2, TRPV4, WISP3, XYLT1.
Copy number variation (CNV) analysis of the Spondylo-Epi-Metaphyseal dysplasia genes is also offered as a panel. Additionally, CTGT offers a comprehensive test (both NGS and CNV panels) for these genes. Panel genes are also offered as individual sequencing and deletion/duplication tests, unless otherwise indicated.
Gene |
Disorder |
MIM |
Inheritance |
ACP5 |
Spondyloenchondrodysplasia with immune dysregulation |
607944 |
AR |
B3GALT6
|
Ehlers-Danlos syndrome, progeroid type, 2
Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
|
615349
271640
|
AR
|
B3GAT3
|
Multiple joint dislocations, short stature,
craniofacial dysmorphism, with or without congenital heart defects
|
245600
|
AR
|
BGN
|
Spondyloepimetaphyseal dysplasia, X-linked
|
300106
|
XLR
|
C21orf2
|
Axial spondylometaphyseal dysplasia
Short-rib thoracic dysplasia, C21orf2 related
|
602271
-
|
AR
AR
|
CANT1
|
Desbuquois dysplasia 1
|
251450
|
AR
|
CHST3
|
Spondyloepiphyseal dysplasia with congenital joint dislocations
|
143095
|
AR
|
COL2A1
|
Type II collagenopathies
|
108300, 132450 150600, 151210 156550, 183900 184250, 200610 271700, 604864 608805, 609162 609508, 616583
|
AD
|
COL9A1
|
Epiphyseal dysplasia, multiple, 6
Stickler syndrome, type IV
|
614135
614134
|
AD AR
|
COL9A2
|
Epiphyseal dysplasia, multiple, 2
Stickler syndrome, type V
|
600204
614284
|
AD AR
|
COL9A3
|
Epiphyseal dysplasia, multiple, 3
Stickler syndrome, COL9A3 related
|
600969
|
AD AR
|
COL10A1
|
Metaphyseal chondrodysplasia, Schmid type
|
156500
|
AD
|
COL11A1
|
Fibrochondrogenesis 1 Marshall syndrome Stickler syndrome, type II
|
228520 154780 604841
|
AR AD AD
|
COL11A2
|
Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia Stickler syndrome, type III Weissenbacher-Zweymuller syndrome
|
614524 215150 184840 277610
|
AD/AR AR AD AD
|
COMP
|
Epiphyseal dysplasia, multiple, 1
Pseudoachondroplasia
|
132400 177170
|
AD
AD
|
DYM
|
Dyggve-Melchior-Clausen disease
Smith-McCort dysplasia
|
223800
607326
|
AR
AR
|
DDR2
|
Spondylometaepiphyseal dysplasia, short limb-hand type
|
271665
|
AR
|
EIF2AK3
|
Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus (Wolcott-Rallison syndrome)
|
226980
|
AR
|
FGFR3
|
Achondroplasia Hypochondroplasia Thanatophoric dysplasia, type I Thanatophoric dysplasia, type II
|
100800
146000
187600
187601
|
AD AD AD AD
|
FLNB |
FLNB related disorders |
108720, 108721 112310, 150250 272460 |
AD/AR |
GPX4 |
Spondylometaphyseal dysplasia, Sedaghatian type |
250220 |
AR |
HSPG2 |
Dyssegmental dysplasia, Silverman-Handmaker typeSchwartz-Jampel syndrome, type 1 |
224410255800 |
ARAR |
IHH |
Acrocapitofemoral dysplasia |
607778 |
AR |
IMPAD1 |
Chondrodysplasia with joint dislocations, GPAPP type |
614078 |
AR |
INPPL1 |
Opsismodysplasia |
258480 |
AR |
KIF22 |
Spondyloepimetaphyseal dysplasia with joint laxity, type 2 |
603546 |
AD |
LIFR |
Stuve-Wiedemann syndrome |
601559 |
AR |
LONP1 |
CODAS syndrome |
600373 |
AR |
MATN3 |
Epiphyseal dysplasia, multiple, 5Spondyloepimetaphyseal dysplasia, MATN3 related |
607078608728 |
AD AR |
MMP9 |
Metaphyseal anadysplasia 2 |
613073 |
AR |
MMP13 |
Metaphyseal anadysplasia 1 & Spondyloepimetaphyseal dysplasia, Missouri typeMetaphyseal dysplasia, Spahr type |
602111250400 |
AD AR |
NANS |
Spondyloepimetaphyseal dysplasia, Genevieve type |
610442 |
AR |
NEK1 |
Axial spondylometaphyseal dysplasia, NEK1 related Short-rib thoracic dysplasia 6 with or without polydactyly |
- 263520 |
AR AR / DR |
NKX3-2 |
Spondylo-megaepiphyseal-metaphyseal dysplasia |
613330 |
AR |
NPR2 |
Acromesomelic dysplasia, Maroteaux type (AMDR) Epiphyseal chondrodysplasia, Miura type (ECDM) Short stature with nonspecific skeletal abnormalities (SNSK) |
602875 615923 616255 |
AR AD AD |
PAM16 |
Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type |
613320 |
AR |
PAPSS2
|
Brachyolmia 4 with mild epiphyseal and metaphyseal changes
|
612847
|
AR
|
PCYT1A
|
Spondylometaphyseal dysplasia with cone-rod dystrophy
|
608940
|
AR
|
PTH1R
|
Eiken syndrome
Metaphyseal chondrodysplasia, Murk Jansen type
|
600002
156400
|
AR AD
|
RAB33B
|
Smith-McCort dysplasia 2
|
615222
|
AR
|
RMRP
|
Anauxetic dysplasia Cartilage-hair hypoplasia Metaphyseal dysplasia without hypotrichosis
|
607095
250250
250460
|
AR
AR
AR
|
RNU4ATAC
|
Roifman syndrome
|
616651
|
AR
|
RSPRY1
|
Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type
|
616723
|
AR
|
RUNX2
|
Cleidocranial dysplasia Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly
|
119600
156510
|
AD
AD
|
SBDS
|
Shwachman-Diamond syndrome
|
260400
|
AR
|
SLC26A2
|
Achondrogenesis Ib,
Atelosteogenesis II
De la Chapelle dysplasia
Diastrophic dysplasia
Epiphyseal dysplasia, multiple, 4
|
600972 256050 256050 222600 226900
|
AR
AR
AR
AR
AR
|
SMARCAL1 |
Schimke immunoosseous dysplasia |
242900 |
AR |
TRAPPC2 |
Spondyloepiphyseal dysplasia tarda |
313400 |
XLR |
TRPV4 |
Metatropic dysplasia Parastremmatic dwarfism Spondyloepiphyseal dysplasia, Maroteaux type Spondylometaphyseal dysplasia, Kozlowski type |
156530 168400 184095 184252 |
AD AD AD AD
|
WISP3 |
Spondyloepiphyseal dysplasia tarda with progressive arthropathy |
208230 |
AR |
XYLT1 |
Desbuquois dysplasia 2 |
615777 |
AR |
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