List of diseases covered by
Ehlers-Danlos Syndrome NGS panel

Gene Condition
ADAMTS2 Ehlers-Danlos syndrome, dermatosparaxis type
AEBP1 Ehlers-Danlos syndrome, classic-like, 2
ALDH18A1 Cutis laxa, autosomal dominant 3;
Cutis laxa, autosomal recessive, type IIIA;
Spastic paraplegia 9A, autosomal dominant;
Spastic paraplegia 9B, autosomal recessive
ATP7A Occipital horn syndrome; Menkes disease;
Spinal muscular atrophy, distal, X-linked 3
ATP6V0A2 Cutis laxa, autosomal recessive, type IIA;
Wrinkly skin syndrome
B3GALT6 Ehlers-Danlos syndrome, spondylodysplastic type, 2;
Spondyloepimetaphyseal dysplasia with joint laxity, type 1,
with or without fractures
B3GAT3 Multiple joint dislocations, short stature,
craniofacial dysmorphism, with or without congenital heart defects
B4GALT7 Ehlers-Danlos syndrome, spondylodysplastic type, 1
CHST14 Ehlers-Danlos syndrome, musculocontractural type 1
COL12A1 Bethlem myopathy 2;
Ullrich congenital muscular dystrophy 2
COL1A1 Ehlers-Danlos syndrome, arthrochalasia type, 1;
Caffey disease; Osteogenesis imperfecta, type I;
Osteogenesis imperfecta, type II;
Osteogenesis imperfecta, type III; Osteogenesis imperfecta, type IV
COL1A2 Ehlers-Danlos syndrome, arthrochalasia type, 2;
Ehlers-Danlos syndrome, cardiac valvular type;
Osteogenesis imperfecta, type II;
Osteogenesis imperfecta, type III; Osteogenesis imperfecta, type IV
COL3A1 Ehlers-Danlos syndrome, vascular type
COL5A1 Ehlers-Danlos syndrome, classic type, 1
COL5A2 Ehlers-Danlos syndrome, classic type, 2
C1R Ehlers-Danlos syndrome, periodontal type, 1
C1S Ehlers-Danlos syndrome, periodontal type, 2;
C1s deficiency
GORAB Geroderma osteodysplasticum
DSE Ehlers-Danlos syndrome, musculocontractural type 2
EFEMP2 Cutis laxa, autosomal recessive, type IB
ELN Cutis laxa, autosomal dominant;
Supravalvar aortic stenosis
FBLN5 Cutis laxa, autosomal dominant 2;
Cutis laxa, autosomal recessive, type IA;
Neuropathy, hereditary, with or without age-related macular degeneration
FBN1 Acromicric dysplasia; Ectopia lentis, familial;
Geleophysic dysplasia 2; Marfan lipodystrophy syndrome;
Marfan syndrome;
MASS syndrome; Stiff skin syndrome;
Weill-Marchesani syndrome 2, dominant
FKBP14 Ehlers-Danlos syndrome, kyphoscoliotic type, 2
FLNA FG syndrome 2; Cardiac valvular dysplasia, X-linked;
Congenital short bowel syndrome; Frontometaphyseal dysplasia 1;
Heterotopia, periventricular; Melnick-Needles syndrome;
Otopalatodigital syndrome, type I;
Otopalatodigital syndrome, type II;
Terminal osseous dysplasia
LTBP4 Cutis laxa, autosomal recessive, type IC
PLOD1 Ehlers-Danlos syndrome, kyphoscoliotic type, 1
PRDM5 Brittle cornea syndrome 2
PYCR1 Cutis laxa, autosomal recessive, type IIB;
Cutis laxa, autosomal recessive, type IIIB
SLC39A13 Ehlers-Danlos syndrome, spondylodysplastic type, 3
RIN2 Macrocephaly, alopecia, cutis laxa, and scoliosis
SMAD3 Loeys-Dietz syndrome 3
TGFB2 Loeys-Dietz syndrome 4
TGFBR1 Loeys-Dietz syndrome 1
TGFBR2 Loeys-Dietz syndrome 2;
TNXB Ehlers-Danlos syndrome, classic-like, 1
ZNF469 Brittle cornea syndrome 1