GENE | OMIM DISEASES | INHERITANCE* | % GENE COVERAGE (20X) | HGMD** |
ADAMTS3 | Hennekam Syndrome | AR | 99.97 | 4 of 4 |
AHDC1 | Xia-Gibbs Syndrome, AHDC1-Related Intellectual Disability-Obstructive Sleep Apnea-Mild Dysmorphism Syndrome | AD | 99.87 | 41 of 43 |
AKT1 | Proteus Syndrome, Meningioma | AD | 100 | 6 of 6 |
ALPL | Hypophosphatasia | AD,AR | 100 | 320 of 321 |
ALX3 | Frontonasal Dysplasia | AR | 89.31 | 8 of 8 |
ALX4 | Craniosynostosis, Frontonasal Dysplasia, Enlarged Parietal Foramina, Isolated Scaphocephaly, Potocki-Shaffer Syndrome | AD,AR | 99.94 | 25 of 25 |
APC2 | Complex Cortical Dysplasia, Sotos Syndrome | AR | 94.97 | 11 of 11 |
ARVCF | 22q11.2 Deletion Syndrome | – | 99.95 | 2 of 2 |
ASXL1 | Bohring-Opitz Syndrome, Bohring-Opitz Syndrome | AD | 99.96 | 41 of 41 |
ATR | Cutaneous Telangiectasia And Cancer Syndrome, Seckel Syndrome | AD,AR | 99.98 | 39 of 40 |
ATRIP | Seckel Syndrome | – | 99.89 | 2 of 2 |
B3GAT3 | Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, With Or Without Congenital Heart Defects | AR | 99.86 | 15 of 15 |
B3GLCT | Peters Plus Syndrome | AR | 99.96 | – |
B4GALT7 | Ehlers-Danlos Syndrome, Spondylodysplastic Type | AR | 99.92 | 11 of 11 |
BMP4 | Syndromic Microphthalmia, Cleft Lip/Palate, Microphthalmia With Brain And Digit Anomalies | AD,MU,P | 100 | 38 of 42 |
BPNT2 | Chondrodysplasia With Joint Dislocations | AR | 97.04 | 4 of 4 |
CCBE1 | Hennekam Lymphangiectasia- Lymphedema Syndrome | AR | 100 | 16 of 16 |
CCNQ | Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations | X,XD,G | 99.59 | – |
CD96 | C Syndrome | AD | 100 | 4 of 4 |
CDC45 | Meier-Gorlin Syndrome, Ear-Patella-Short Stature Syndrome | AR | 99.99 | 19 of 19 |
CDC6 | Meier-Gorlin Syndrome, Ear-Patella-Short Stature Syndrome | AR | 100 | 2 of 2 |
CDH11 | Elsahy-Waters Syndrome, Branchioskeletogenital Syndrome | AR | 99.95 | 10 of 10 |
CDT1 | Meier-Gorlin Syndrome, Ear-Patella-Short Stature Syndrome | AR | 97.43 | 12 of 12 |
CENPE | Primary Microcephaly, Seckel Syndrome | AR | 95.69 | 5 of 5 |
CENPJ | Autosomal Recessive Primary Microcephaly, Seckel Syndrome | AR | 99.97 | 13 of 13 |
CEP120 | Joubert Syndrome, Short-Rib Thoracic Dysplasia With Or Without Polydactyly, Jeune Syndrome | AR | 99.8 | 9 of 9 |
CEP152 | Autosomal Recessive Primary Microcephaly, Seckel Syndrome | AR | 97.73 | 21 of 24 |
CHST14 | Musculocontractural Ehlers-Danlos Syndrome | AR | 97.7 | 21 of 22 |
CHST3 | Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, With Or Without Congenital Heart Defects, Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations, Chst3- Related Skeletal Dysplasia | AR | 99.97 | 38 of 38 |
CLCN7 | Osteopetrosis, Albers- Schonberg Osteopetrosis | AD,AR | 99.85 | 109 of 111 |
COLEC10 | 3mc Syndrome | AR | 99.95 | 3 of 3 |
COLEC11 | Carnevale Syndrome, 3mc Syndrome | AR | 100 | 11 of 11 |
COMT | 22q11.2 Deletion Syndrome | AD | 99.98 | 5 of 5 |
CTCF | Intellectual Disability- Feeding Difficulties- Developmental Delay- Microcephaly Syndrome | AD | 96.6 | 39 of 41 |
CWC27 | Retinitis Pigmentosa With Or Without Skeletal Anomalies | AR | 99.77 | 8 of 8 |
CYP26B1 | Craniosynostosis With Radiohumeral Fusions And Other Skeletal And Craniofacial Anomalies | AR | 100 | 12 of 12 |
DMP1 | Hypophosphatemic Rickets | AR | 99.89 | 11 of 11 |
DONSON | Microcephaly-Micromelia Syndrome, Microcephaly, Short Stature, And Limb Abnormalities | AR | 98.14 | 26 of 27 |
DPF2 | Coffin-Siris Syndrome | AD | 99.99 | 10 of 10 |
DPH1 | Developmental Delay With Short Stature, Dysmorphic Features, And Sparse Hair, Craniofacial Dysplasia- Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome | AR | 100 | 8 of 8 |
DSE | Musculocontractural Ehlers-Danlos Syndrome | AR | 99.94 | 3 of 3 |
EDNRB | Abcd Syndrome, Waardenburg-Shah Syndrome | AD,AR | 99.55 | 70 of 72 |
EFNB1 | Craniofrontonasal Syndrome | X,XD,G | 100 | – |
ENPP1 | Cole Disease, Hypophosphatemic Rickets | AD,AR,MU,P | 96.59 | 73 of 75 |
ERCC2 | Cerebrooculofacioskeletal Syndrome, Trichothiodystrophy, Xeroderma Pigmentosum- Cockayne Syndrome Complex | AR | 100 | 102 of 102 |
ERCC3 | Trichothiodystrophy, Xeroderma Pigmentosum- Cockayne Syndrome Complex | AR | 99.98 | 24 of 24 |
ERF | Chitayat Syndrome, Lambdoid Synostosis, Crouzon Disease, Isolated Cloverleaf Skull Syndrome, Isolated Scaphocephaly | AD | 99.73 | 31 of 31 |
ESCO2 | Roberts Syndrome, Sc Phocomelia Syndrome | AR | 99.69 | 32 of 32 |
ETS2 | Down Syndrome | | 99.99 | 1 of 2 |
EXTL3 | Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities Skeletal Dysplasia-T-cell Immunodeficiency- Developmental Delay Syndrome | AR | 99.99 | 10 of 10 |
FAT4 | Hennekam Lymphangiectasia- lymphedema Syndrome, Van Maldergem Syndrome, Cerebrofacioarticular Syndrome | AR | 99.8 | 41 of 41 |
FBN1 | Acromicric Dysplasia, Isolated Ectopia Lentis, Geleophysic Dysplasia, Marfan Lipodystrophy Syndrome, Mass Syndrome, Weill-Marchesani Syndrome, Acromicric Dysplasia, Shprintzen– Goldberg Syndrome | AD | 100 | 2836 of 2845 |
FGF9 | Multiple Synostoses Syndrome | AD | 100 | 2 of 2 |
FGFR1 | Encephalocraniocutaneous Lipomatosis, Hartsfield Syndrome, Jackson-Weiss Syndrome, Osteoglophonic Dysplasia, Pfeiffer Syndrome, Nonsyndromic Trigonocephaly, Encephalocraniocutaneous Lipomatosis, Lobar Holoprosencephaly, Microform Holoprosencephaly, Septo-Optic Dysplasia Spectrum | AD | 100 | 279 of 280 |
FGFR2 | Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis, Apert Syndrome, Bent Bone Dysplasia Syndrome, Crouzon Syndrome, Cutis Gyrata Syndrome Of Beare And Stevenson, Familial Scaphocephaly Syndrome,, Lacrimoauriculodentodigital Syndrome, Pfeiffer Syndrome, Saethre-Chotzen Syndrome, Familial Scaphocephaly Syndrome, Fgfr2-Related Bent Bone Dysplasia | AD | 98 | 140 of 143 |
FGFR3 | Achondroplasia With Developmental Delay And Acanthosis Nigricans, Camptodactyly , Tall Stature, And Hearing Loss Syndrome, Hypochondroplasia, Lacrimoauriculodentodigital Syndrome, Muenke Syndrome, Thanatophoric Dysplasia, Isolated Brachycephaly, Isolated Plagiocephaly, Saethre- Chotzen Syndrome | AD,AR | 99.89 | 77 of 78 |
FLNA | Fg Syndrome, Frontometaphyseal Dysplasia, Melnick- Needles Syndrome, Otopalatodigital Syndrome, Terminal Osseous Dysplasia, Frontometaphyseal Dysplasia, Otopalatodigital Syndrome, X-linked Ehlers-Danlos Syndrome | X,XR,XD,G | 100 | – |
FLNB | Atelosteogenesis, Boomerang Dysplasia, Larsen Syndrome, Spondylocarpotarsal Synostosis Syndrome | AD,AR | 100 | 124 of 124 |
FREM1 | Manitoba Oculotrichoanal Syndrome, Trigonocephaly, Bnar Syndrome, Isolated Trigonocephaly | AD,AR | 97.32 | 27 of 30 |
GDF5 | Acromesomelic Dysplasia, Brachydactyly, Chondrodysplasia, Fibular Hypoplasia And Complex Brachydactyly, Multiple Synostoses Syndrome, Symphalangism, Angel-Shaped Phalango- Epiphyseal Dysplasia, Brachydactyly Syndrome, Multiple Synostoses Syndrome, Proximal Symphalangism | AD,AR | 99.48 | 48 of 51 |
GLI3 | Greig Cephalopolysyndactyly Syndrome, Pallister-Hall Syndrome, Polydactyly, Acrocallosal Syndrome, Tibial Hemimelia | AD,AR | 100 | 231 of 231 |
GLIS3 | Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism | AR | 99.83 | 21 of 21 |
GMNN | Meier-Gorlin Syndrome, Ear-Patella-Short Stature Syndrome | AD | 99.72 | 3 of 3 |
GNPTAB | Mucolipidosis II and III | AR | 100 | 279 of 280 |
GP1BB | 22q11.2 Deletion Syndrome | AR | 74.08 | 26 of 50 |
GPC6 | Autosomal Recessive Omodysplasia | AR | 99.92 | 3 of 3 |
GTF2E2 | Nonphotosensitive Trichothiodystrophy | AR | 99.98 | 2 of 2 |
GTF2H5 | Photosensitive Trichothiodystrophy | AR | 100 | 8 of 8 |
HIRA | 22q11.2 Deletion Syndrome | – | 99.99 | 5 of 5 |
HNRNPK | Au-Kline Syndrome; Auks , | AD | 99.88 | 16 of 17 |
HUWE1 | X-linked Intellectual Disability | X,G | 99.41 | – |
IFT122 | Cranioectodermal Dysplasia | AR | 99.83 | 22 of 22 |
IFT140 | Short-Rib Thoracic Dysplasia With Or Without Polydactyly, Jeune Syndrome | AR | 99.97 | 81 of 81 |
IFT43 | Cranioectodermal Dysplasia, Shoty-Rib Thoracic Dysplasia With Polydactyly | AR | 100 | 6 of 6 |
IFT52 | Short-Rib Thoracic Dysplasia With Or Without Polydactyly, Cranioectodermal Dysplasia | AR | 99.8 | 8 of 8 |
IHH | Acrocapitofemoral Dysplasia, Brachydactyly, Acrocapitofemoral Dysplasia | AD,AR | 99.39 | 28 of 29 |
IL11RA | Craniosynostosis And Dental Anomalies | AR | 100 | 22 of 22 |
IL6ST | Hyper-IgE Recurrent Infection Syndrome | AR | 99.34 | 2 of 2 |
IRX5 | Hamamy Syndrome | AR | 97.1 | 5 of 5 |
JMJD1C | 22q11.2 Deletion Syndrome | | 99.09 | 27 of 27 |
KAT6A | Arboleda-Tham Syndrome, Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome | AD | 99.89 | 66 of 68 |
KPTN | Macrocephaly- Developmental Delay Syndrome | AR | 100 | 5 of 5 |
KRAS | Aplasia Cutis Congenita With Epibulbar Dermoids, Cardiofaciocutaneous Syndrome, Noonan Syndrome, Schimmelpenning -Feuerstein-Mims Syndrome, Encephalocraniocutaneous Lipomatosis, Toriello- Lacassie–Droste Syndrome | AD | 100 | 38 of 38 |
LEMD3 | Buschke-Ollendorff Syndrome, 12q14 Microdeletion Syndrome, Isolated Osteopoikilosis, Melorheostosis With Osteopoikilosis | AD | 99.06 | 30 of 33 |
LIG4 | Lig4 Syndrome, Dubowitz Syndrome, Omenn Syndrome | AR | 99.48 | 46 of 46 |
LRP5 | Endosteal Hyperostosis, Osteopetrosis, Van Buchem Disease, Endosteal Hyperostosis, Hyperostosis Corticalis Generalisata, Osteosclerosis- Developmental Delay-Craniosynostosis Syndrome | AD,AR | 98.12 | 265 of 269 |
MAF | Ayme-gripp Syndrome, Cataract-Microcornea Syndrome | AD | 75.14 | 23 of 23 |
MAN2B1 | Alpha-Mannosidosis | AR | 100 | 149 of 149 |
MAP3K7 | Cardiospondylocarpofacial Syndrome, Frontometaphyseal Dysplasia | AD | 99.96 | 13 of 13 |
MASP1 | 3mc Syndrome | AR | 100 | 29 of 30 |
MED12 | Lujan-Fryns Syndrome, Ohdo Syndrome, Opitz-Kaveggia Syndrome, Fg Syndrome, X-linked Intellectual Disability With Marfanoid Habitus | X,XR,G | 100 | – |
MEGF8 | Carpenter Syndrome | AR | 98.97 | 22 of 22 |
MIR140 | Spondyloepiphyseal Dysplasia | AD | – | – |
MPLKIP | Nonphotosensitive Trichothiodystrophy | AR | 100 | 13 of 13 |
MSX2 | Craniosynostosis, Parietal Foramina With Cleidocranial Dysplasia, Enlarged Parietal Foramina | AD | 99.98 | 15 of 15 |
MYH3 | Arthrogryposis, Contractures, Pterygia, And Spondylocarpostarsal Fusion Syndrome, Autosomal Recessive Multiple Pterygium Syndrome, Digitotalar Dysmorphism, Freeman-Sheldon Syndrome, Sheldon-Hall Syndrome | AD,AR | 100 | 46 of 47 |
NFIX | Marshall-Smith Syndrome, Sotos Syndrome, 19p13.3 Microduplication Syndrome, Malan Overgrowth Syndrome, Marshall-Smith Syndrome | AD | 94.42 | 75 of 81 |
NOG | Brachydactyly, Multiple Synostoses Syndrome, Stapes Ankylosis With Broad Thumb And Toes, Symphalangism, Tarsal- Carpal Coalition Syndrome, Synostosis Of Talus And Calcaneus With Short Stature | AD | 99.89 | 61 of 62 |
NSD1 | Sotos Syndrome, 5q35 Microduplication Syndrome, Weaver Syndrome | AD | 99.8 | 451 of 459 |
NSUN2 | Autosomal Recessive Non-Syndromic Intellectual Disability, Dubowitz Syndrome | AR | 99.99 | 8 of 8 |
ORC1 | Ear, Patella, Short Stature Syndrome | AR | 100 | 12 of 12 |
ORC4 | Meier-Gorlin Syndrome, Ear-Patella-Short Stature Syndrome | AR | 100 | 4 of 4 |
ORC6 | Meier-Gorlin Syndrome, Ear-Patella-Short Stature Syndrome | AR | 100 | 6 of 6 |
P4HB | Cole-Carpenter Syndrome | AD | 94.97 | 13 of 13 |
PAX3 | Craniofacial-Deafness- Hand Syndrome, Waardenburg Syndrome | AD,AR | 99.98 | 157 of 157 |
PCNT | Microcephalic Osteodysplastic Primordial Dwarfism, Seckel Syndrome | AR | 99.92 | 103 of 105 |
PHEX | X-linked Hypophosphatemia | X,XD,G | 99.42 | – |
PIGT | Multiple Congenital Anomalies-Hypotonia- Seizures Syndrome, Paroxysmal Nocturnal Hemoglobinuria, Intellectual Disability- Seizures- Hypophosphatasia- Ophthalmic-Skeletal Anomalies Syndrome | AD,AR | 100 | 15 of 15 |
PLK4 | Microcephaly And Chorioretinopathy, Seckel Syndrome | AR | 99.74 | 10 of 10 |
POLA1 | Van Esch-O’driscoll Syndrome, X-linked Intellectual Disability | X,XR,G | 99.26 | – |
POR | Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis | AD,AR | 99.98 | 67 of 68 |
PPP1CB | Noonan Syndrome- Like Disorder With Loose Anagen Hair | AD | 99.87 | 12 of 12 |
PPP3CA | Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development, Undetermined Early-Onset Epileptic Encephalopathy | AD | 99.98 | 16 of 16 |
PSAT1 | Neu-Laxova Syndrome, Phosphoserine Aminotransferase Deficiency | AR | 99.95 | 9 of 9 |
PTEN | Macrocephaly/Autism Syndrome, Bannayan– Riley-Ruvalcaba Syndrome, Lhermitte-Duclos Disease, Segmental Outgrowth- Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome | AD | 99.97 | 609 of 629 |
RAB23 | Carpenter Syndrome | AR | 100 | 15 of 15 |
RAC3 | Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies | AD | 94.13 | 5 of 5 |
RBBP8 | Jawad Syndrome, Seckel Syndrome | AR | 96.02 | 6 of 6 |
RECQL4 | Baller-Gerold Syndrome, Rapadilino Syndrome, Rothmund– Thomson Syndrome | AR | 96.72 | 134 of 135 |
RNF113A | Nonphotosensitive Trichothiodystrophy | X,XD,G | 99.7 | – |
RREB1 | 22q11.2 Deletion Syndrome | | 99.92 | 8 of 8 |
RSPRY1 | Spondyloepimetaphyseal Dysplasia | AR | 99.98 | 4 of 4 |
RTTN | Microcephaly, Short Stature, And Polymicrogyria With Seizures, Microcephalic Primordial Dwarfism Due To Rttn Deficiency | AR | 99.94 | 28 of 29 |
RUNX2 | Cleidocranial Dysplasia, Metaphyseal Dysplasia With Maxillary Hypoplasia And Brachydactyly, Cleidocranial Dysplasia | AD | 73.67 | 189 of 190 |
SCARF2 | Van Den Ende-Gupta Syndrome | AR | 93.06 | 13 of 13 |
SEC24C | 22q11.2 Deletion Syndrome | | 99.98 | – |
SEC24D | Cole-Carpenter Syndrome | AR | 99.97 | 14 of 14 |
SETD2 | Luscan-Lumish Syndrome, Sotos Syndrome | AD | 99.83 | 19 of 19 |
SKI | Shprintzen-Goldberg Craniosynostosis Syndrome, 1p36 Deletion Syndrome | AD | 99.66 | 39 of 39 |
SLC12A6 | Corpus Callosum Agenesis-Neuronopathy Syndrome | AR | 100 | 21 of 21 |
SLC25A24 | Fontaine Progeroid Syndrome, Gorlin– Chaudhry-Moss Syndrome | AD | 99.59 | 2 of 2 |
SLC2A10 | Arterial Tortuosity Syndrome | AR | 100 | 35 of 35 |
SLC35A2 | Congenital Disorder Of Glycosylation | X,XD,G | 99.97 | – |
SLC39A8 | Congenital Disorder Of Glycosylation | AR | 99.89 | 7 of 7 |
SMAD3 | Loeys-Dietz Syndrome, Aneurysm-Osteoarthritis Syndrome | AD | 100 | 128 of 128 |
SMAD6 | Craniosynostosis | AD | 80.88 | 64 of 74 |
SMO | Craniofacial Malformations With Polysyndactyly And Abnormal Skin And Gut Development, Curry-Jones Syndrome | AR | 94.03 | 10 of 10 |
SNX10 | Autosomal Recessive Malignant Osteopetrosis | AR | 100 | 14 of 14 |
SON | Zttk Syndrome, Brain Malformations- Musculoskeletal Abnormalities- Facial Dysmorphism- Intellectual Disability Syndrome | AD | 99.27 | 30 of 32 |
SOX10 | Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome | AD | 99.74 | 139 of 147 |
SPECC1L | Facial Clefting, Hypertelorism, Opitz Gbbb Syndrome | AD | 99.66 | 14 of 14 |
STAT3 | Hyper-IgE Recurrent Infection Syndrome, Permanent Neonatal Diabetes Mellitus | AD | 100 | 171 of 171 |
TANC2 | Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures, Non-Specific Syndromic Intellectual Disability | AD | 97.81 | 21 of 21 |
TARS1 | Nonphotosensitive Trichothiodystrophy | AR | 99.94 | – |
TBC1D24 | Doors Syndrome, Rolandic Epilepsy With Paroxysmal Exercise-Induced Dystonia Andwriter’s Cramp, Myoclonic Epilepsy | AD,AR | 100 | 80 of 80 |
TBX1 | DiGeorge Syndrome, Velocardiofacial Syndrome | AD,AR | 88.7 | 35 of 42 |
TCF12 | Craniosynostosis, Isolated Brachycephaly, Isolated Plagiocephaly | AD | 99.98 | 73 of 76 |
TCIRG1 | Osteopetrosis, Dysosteosclerosis | AR | 100 | 140 of 146 |
TCOF1 | Treacher Collins- Franceschetti Syndrome | AD | 100 | 326 of 327 |
TGFB2 | Loeys-Dietz Syndrome | AD | 99.9 | 41 of 44 |
TGFB3 | Loeys-Dietz Syndrome | AD | 100 | 34 of 35 |
TGFBR1 | Loeys-Dietz Syndrome | AD | 94 | 96 of 100 |
TGFBR2 | Loeys-Dietz Syndrome | AD | 99.9 | 165 of 166 |
TLK2 | Autosomal Dominant Mental Retardation | AD | 96.98 | 39 of 39 |
TMCO1 | Cerebrofaciothoracic Dysplasia | AR | 88 | 5 of 5 |
TNFSF11 | Autosomal Recessive Malignant Osteopetrosis | AR | 99.84 | 4 of 4 |
TRAIP | Seckel Syndrome | AR | 100 | 2 of 2 |
TWIST1 | Craniosynostosis, Robinow-Sorauf Syndrome, Saethre-Chotzen Syndrome, Sweeney- Cox Syndrome, Isolated Brachycephaly, Isolated Plagiocephaly, Isolated Scaphocephaly | AD | 74.06 | 133 of 161 |
TWIST2 | Ablepharon-Mac rostomia Syndrome, Barber-Say Syndrome | AD,AR | 99.82 | 9 of 9 |
UFD1 | 22q11.2 Deletion Syndrome | – | 99.98 | – |
WDR19 | Cranioectodermal Dysplasia, Senior- Loken Syndrome, Jeune Syndrome | AR | 99.96 | 47 of 49 |
WDR35 | Cranioectodermal Dysplasia, Short Rib- Polydactyly Syndrome | AR | 100 | 31 of 33 |
YY1 | Gabriele-de Vries Syndrome | AD | 99.89 | 13 of 13 |
ZEB2 | Mowat-Wilson Syndrome | AD | 98.95 | 253 of 254 |
ZIC1 | Craniosynostosis, Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis, Isolated Brachycephaly, Isolated Oxycephaly , Isolated Plagiocephaly | AD | 100 | 7 of 7 |