GENE | OMIM DISEASES | INHERITANCE* | % GENE COVERAGE (20X) | HGMD** |
ABCC6 | Arterial Calcification, Pseudoxanthoma Elasticum | AD,AR | 99 | 346 of 349 |
ADAMTS2 | Ehlers-Danlos Syndrome | AR | 95.99 | 9 of 10 |
AEBP1 | Ehlers-Danlos Syndrome | AR | 99.35 | 9 of 9 |
ALDH18A1 | Cutis Laxa, Spastic Paraplegia, De Barsy Syndrome | AD,AR | 100 | 39 of 40 |
ANTXR1 | Gapo Syndrome, Hemangioma | AD,AR | 100 | 19 of 19 |
ATP6AP2 | Congenital Disorder Of Glycosylation, Parkinsonism- Spasticity Syndrome | X,XR,G | 100 | – |
ATP6V0A2 | Cutis Laxa, Wrinkly Skin Syndrome | AR | 99.99 | 55 of 55 |
ATP6V1A | Cutis Laxa, Epileptic Encephalopathy | AD,AR | 99.98 | 9 of 9 |
ATP6V1E1 | Cutis Laxa | AR | 100 | 2 of 2 |
ATP7A | Cutis Laxa, Menkes Disease, Spinal Muscular Atrophy, Occipital Horn Syndrome | X,XR,G | 99.83 | – |
B3GALT6 | Ehlers-Danlos Syndrome, Spondyloepimetaphyseal Dysplasia With Joint Laxity | AR | 65.09 | 24 of 39 |
B3GAT3 | Multiple Joint Dislocations, Craniofacial Dysmorphism With Or Without Congenital Heart Defects | AR | 99.86 | 15 of 15 |
B4GALT7 | Ehlers-Danlos Syndrome | AR | 99.92 | 11 of 11 |
BAZ1B | Williams Syndrome | – | 99.05 | 5 of 5 |
BCL11B | Immunodeficiency, Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities | AD | 96.06 | 12 of 12 |
BRAF | Cardiofaciocutaneous Syndrome, Leopard Syndrome, Noonan Syndrome, Craniopharyngioma | AD | 100 | 80 of 80 |
C1R | Ehlers-Danlos Syndrome | AD | 98.89 | 16 of 16 |
CD96 | C Syndrome | AD | 100 | 4 of 4 |
CEP55 | Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, Hydranencephaly, Meckel Syndrome | AR | 99.22 | 3 of 3 |
CHST14 | Ehlers-Danlos Syndrome | AR | 97.7 | 21 of 22 |
CHST3 | Multiple Joint Dislocations, Craniofacial Dysmorphism With Or Without Congenital Heart Defects, Spondyloepiphyseal Dysplasia, Skeletal Dysplasia | AR | 99.97 | 38 of 38 |
CLIP2 | Williams Syndrome | – | 99.99 | 1 of 1 |
COL3A1 | Ehlers-Danlos Syndrome, Polymicrogyria, Acrogeria, Cerebral Saccular Aneurysm | AD,AR | 100 | 676 of 676 |
CSPP1 | Joubert Syndrome, Meckel Syndrome | AR | 98.32 | 29 of 30 |
DSE | Ehlers-Danlos Syndrome | AR | 99.94 | 3 of 3 |
EED | Cohen-Gibson Syndrome, Weaver Syndrome | AD | 99.92 | 10 of 10 |
EFEMP2 | Cutis Laxa | AR | 99.99 | 17 of 17 |
ELN | Cutis Laxa, Supravalvular Aortic Stenosis, Williams- Beuren Syndrome, Familial Thoracic Aortic Aneurysm And Aortic Dissection | AD | 99.99 | 95 of 96 |
EXT1 | Chondrosarcoma, Exostoses, Multiple Osteochondromas, Trichorhinophalangeal Syndrome | AD,AR | 99.97 | 518 of 525 |
EZH2 | Weaver Syndrome | AD | 99.82 | 40 of 41 |
FBLN5 | Cutis Laxa, Neuropathy, Macular Degeneration | AD,AR | 97.43 | 23 of 23 |
FBN1 | Acromicric Dysplasia, Ectopia Lentis, Geleophysic Dysplasia, Marfan Syndrome, Mass Syndrome, Stiff Skin Syndrome, Weill-Marchesani Syndrome, Thoracic Aortic Aneurysm And Aortic Dissection, Shprintzen-Goldberg Syndrome | AD | 100 | 2836 of 2845 |
FGF20 | Renal Hypodysplasia, Renal Agenesis | AR | 99.76 | 2 of 2 |
FGFR2 | Antley-Bixler Syndrome, Apert Syndrome, Bent Bone Dysplasia Syndrome, Crouzon Syndrome, Cutis Gyrata Syndrome, Scaphocephaly Syndrome, Jackson-Weiss Syndrome, Lacrimoauriculodentodigital Syndrome, Pfeiffer Syndrome, Saethre- Chotzen Syndrome | AD | 98 | 140 of 143 |
FGFR3 | Achondroplasia, Crouzon Syndrome With Acanthosis Nigricans, Epidermal Nevus, Hypochondroplasia Lacrimoauriculodentodigital Syndrome, Muenke Syndrome, Thanatophoric Dysplasia, Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome, Brachycephaly, Plagiocephaly, Saethre-Chotzen Syndrome | AD,AR | 99.89 | 77 of 78 |
FIG4 | Amyotrophic Lateral Sclerosis, Charcot- Marie-Tooth Disease, Cleidocranial Dysplasia With Micrognathia, Polymicrogyria, Bilateral Parasagittal Parieto-Occipital Polymicrogyria, Yunis-Varon Syndrome | AD,AR | 99.92 | 72 of 72 |
FLNA | Cardiac Valvular Dysplasia, Fg Syndrome, Frontometaphyseal Dysplasia, Heterotopia, Intestinal Pseudoobstruction, Melnick-Needles Syndrome Otopalatodigital Syndrome, Terminal Osseous Dysplasia, Short Bowel Syndrome, Ehlers-Danlos Syndrome | X,XR,XD,G | 100 | – |
FOXC1 | Axenfeld-Rieger Syndrome, Iridogoniodysgenesis, Peters Anomaly | AD | 88.98 | 94 of 100 |
GGCX | Pseudoxanthoma Elasticum-Like Disorder With Retinitis Pigmentosa, Vitamin K-Dependent Clotting Factors, Body Skin Hyperlaxity | AR | 100 | 62 of 62 |
GORAB | Geroderma Osteodysplastica | AR | 96 | 17 of 18 |
GPX4 | Spondylometaphyseal Dysplasia | AR | 79.72 | 3 of 3 |
GSN | Amyloidosis | AD | 96.69 | 16 of 17 |
GTF2I | Williams Syndrome | – | 63.79 | – |
GTF2IRD1 | Williams Syndrome | – | 99.98 | 1 of 1 |
HPGD | Clubbing Of Digits, Hypertrophic Osteoarthropathy, Cranio-Osteoarthropathy, Pachydermoperiostosis | AR | 100 | 17 of 17 |
HRAS | Costello Syndrome, Epidermal Nevus, Giant Pigmented Hairy Nevus, Schimmelpenning– Feuerstein- Mims Syndrome, Linear Nevus Sebaceus Syndrome | AD | 100 | 34 of 34 |
IFT43 | Cranioectodermal Dysplasia, Retinitis Pigmentosa, Short-Rib Thoracic Dysplasia With Polydactyly | AR | 100 | 6 of 6 |
KIAA0586 | Joubert Syndrome, Short-Rib Thoracic Dysplasia | AR | 99.84 | 31 of 32 |
KRAS | Aplasia Cutis Congenita With Epibulbar Dermoids, Arteriovenous Malformation Of The Brain, Cardiofaciocutaneous Syndrome, Leukemia, Noonan Syndrome, Autoimmune Lymphoproliferative Syndrome, Schimmelpenning– Feuerstein-Mims Syndrome, Encephalocraniocutaneous Lipomatosis, Linear Nevus Sebaceus Syndrome, Lynch Syndrome, Toriello- Lacassie–Droste Syndrome | AD | 100 | 38 of 38 |
LIMK1 | Williams Syndrome | | 100 | 2 of 2 |
LTBP4 | Cutis Laxa, Duchenne Muscular Dystrophy | AR | 97.45 | 27 of 27 |
MAN1B1 | Non-Syndromic Intellectual Disability | AR | 99.97 | 29 of 30 |
MAP2K1 | Cardiofaciocutaneous Syndrome, Melorheostosis, Noonan Syndrome | AD | 100 | 31 of 31 |
MAP2K2 | Cardiofaciocutaneous Syndrome, Noonan Syndrome | AD | 100 | 37 of 37 |
MEGF8 | Carpenter Syndrome | AR | 98.97 | 22 of 22 |
MLXIPL | Williams-Beuren Syndrome | AD | 99.42 | – |
MRPS16 | Oxidative Phosphorylation Deficiency | AR | 100 | 1 of 1 |
MRPS22 | Combined Oxidative Phosphorylation Deficiency, Ovarian Dysgenesis, XX Gonadal Dysgenesis | AR | 100 | 10 of 10 |
NAA10 | Microphthalmia, Ogden Syndrome | X,XR,XD,G | 99.86 | – |
NBAS | Infantile Liver Failure Syndrome, Short Stature, Optic Nerve Atrophy Pelger-Huet Anomaly | AR | 99.98 | 60 of 61 |
NDUFB11 | Linear Skin Defects, Microphthalmia, Complex I Deficiency | X,XD,G | 97.48 | – |
NEPRO | Anauxetic Dysplasia | AR | – | – |
NPR2 | Acromesomelic Dysplasia, Epiphyseal Chondrodysplasia, Short Stature With Nonspecific Skeletal Abnormalities | AD,AR | 100 | 81 of 81 |
NSD1 | Sotos Syndrome, Weaver Syndrome | AD | 99.8 | 451 of 459 |
OSMR | Amyloidosis | AD | 100 | 14 of 14 |
PEX1 | Peroxisome Biogenesis Disorder, Zellweger Syndrome, Deafness-Enamel Hypoplasia-Nail Defects Syndrome, Refsum Disease, Arenoleukodystrophy | AR | 97.02 | 126 of 134 |
PITX2 | Iridogoniodysgenesis, Ring Dermoid Of Cornea, Axenfeld-Rieger Syndrome, Peters Anomaly | AD | 99.97 | 104 of 107 |
PLOD1 | Ehlers-Danlos Syndrome | AR | 100 | 36 of 36 |
PTDSS1 | Lenz-Majewski Hyperostotic Dwarfism | AD | 100 | 7 of 7 |
PYCR1 | Cutis Laxa, Geroderma Osteodysplastica | AR | 100 | 44 of 44 |
RFC2 | Williams Syndrome | – | 100 | 3 of 3 |
RIN2 | Macrocephaly, Alopecia, Cutis Laxa, Scoliosis, Rin2 Syndrome | AR | 99.6 | 4 of 4 |
RIT1 | Noonan Syndrome | AD | 99.85 | 27 of 27 |
RPS6KA3 | Coffin-Lowry Syndrome | X,XD,G | 99.95 | – |
SLC25A24 | Fontaine Progeroid Syndrome, Gorlin– Chaudhry-Moss Syndrome | AD | 99.59 | 2 of 2 |
SLC2A10 | Arterial Tortuosity Syndrome | AR | 100 | 35 of 35 |
SLC6A8 | Creatine Deficiency Syndrome | X,XR,G | 99.87 | – |
SLC7A7 | Lysinuric Protein Intolerance | AR | 100 | 61 of 61 |
SPINT2 | Diarrhea With Or Without Other Congenitalanomalies | AR | 100 | 14 of 14 |
SRD5A3 | Congenital Disorder Of Glycosylation, Kahrizi Syndrome | AR | 100 | 15 of 15 |
SUZ12 | Imagawa-Matsumoto Syndrome, Weaver Syndrome | AD | 98.82 | 3 of 3 |
TBL2 | Williams Syndrome | – | 96.14 | – |
TBX15 | Pelviscapular Dysplasia | AR | 100 | 3 of 3 |
TRPS1 | Trichorhinophalangeal Syndrome | AD | 99.45 | 108 of 112 |
TWIST2 | Ablepharon-Macrostomia Syndrome, Barber-Say Syndrome, Focal Facial Dermal Dysplasia | AD,AR | 99.82 | 9 of 9 |
VAC14 | Striatonigral Degeneration, Yunis-Varon Syndrome | AR | 100 | 11 of 11 |
WDR19 | Asphyxiating Thoracic Dystrophy, Cranioectodermal Dysplasia, Nephronophthisis, Senior-Loken Syndrome, Jeune Syndrome | AR | 99.96 | 47 of 49 |
WDR35 | Cranioectodermal Dysplasia, Short-Rib Thoracic Dysplasia With Or Without Polydactyly | AR | 100 | 31 of 33 |
WDR37 | Neurooculocardiogenitourinary Syndrome | AD | 100 | 5 of 5 |
XYLT1 | Desbuquois Syndrome, Pseudoxanthoma Elasticum | AR | 92.61 | 19 of 23 |
XYLT2 | Pseudoxanthoma Elasticum, Spondylo-Ocular Syndrome | AR | 99.98 | 12 of 12 |
ZNF469 | Brittle Cornea Syndrome | AR | 99.91 | 79 of 79 |