GENE | OMIM DISEASES | INHERITANCE* | % GENE COVERAGE (20X) | HGMD** |
ACTG2 | Familial Visceral Myopathy, Megacystis–Microcolon-Intestinal Hypoperistalsis Syndrome | AD | 99.91 | 23 of 23 |
ALG9 | Congenital Disorder Of Glycosylation Type II, Polycystic Kidney Disease Potter Type I With Microbrachycephaly, Hypertelorism And Brachymelia | AR | 99.99 | 6 of 6 |
AMER1 | Osteopathia Striata With Cranial Sclerosis | X,XD,G | 99.45 | NA of NA |
BHLHA9 | Camptosynpolydactyly, Gollop-Wolfgang Complex, Mesoaxial Synostotic Syndactyly With Phalangeal Reduction, Tibial Aplasia-Ectrodactyly Syndrome | AR | 43.88 | 6 of 7 |
CD96 | C Syndrome | AD | 100 | 4 of 4 |
CDKN1C | Beckwith-Wiedemann Syndrome, Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita And Genital Anomalies, Image Syndrome | AD | 73.58 | 55 of 76 |
CEP120 | Joubert Syndrome, Short-Rib Thoracic Dysplasia With Or Without Polydactyly, Jeune Syndrome, Joubert Syndrome | AR | 99.8 | 9 of 9 |
CHD7 | Charge Syndrome, Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome, Omenn Syndrome | AD | 96.25 | 823 of 896 |
CHUK | Cocoon Syndrome | AR | 100 | 5 of 5 |
COL11A1 | Autosomal Dominant Deafness, Fibrochondrogenesis, Marshall Syndrome, Stickler Syndrome Type II, Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome | AD,AR | 100 | 104 of 106 |
COL11A2 | Autosomal Dominant Deafness, Fibrochondrogenesis, Otospondylomegaepiphyseal Dysplasia, Stickler Syndrome Type III | AD,AR | 99.98 | 58 of 58 |
DACT1 | Townes-Brocks Syndrome, Craniorachischisis | AD | 98.12 | 8 of 9 |
DHCR7 | Smith-Lemli–Opitz Syndrome | AR | 100 | 217 of 217 |
DVL3 | Autosomal Dominant Robinow Syndrome | AD | 100 | 16 of 16 |
DYNC2H1 | Short-Rib Thoracic Dysplasia With Or Without Polydactyly, Jeune Syndrome, Verma-Naumoff Type | AR,MU,D | 99.78 | 214 of 221 |
DYNC2I1 | Short-Rib Thoracic Dysplasia With Or Without Polydactyly, Jeune Syndrome, Verma-Naumoff Type | AR | 97.76 | 14 of 14 |
DYNC2I2 | Short-Rib Thoracic Dysplasia With Or Without Polydactyly, Jeune Syndrome, Verma-Naumoff Type | AR | 99.54 | 23 of 23 |
FGFR1 | Encephalocraniocutaneous Lipomatosis, Hartsfield Syndrome, Jackson-Weiss Syndrome, Kallmann Syndrome, Osteoglophonic Dysplasia, Pfeiffer Syndrome, Trigonocephaly, Lobar Holoprosencephaly, Microform Holoprosencephaly, Normosmic Congenital Hypogonadotropic Hypogonadism, Oligodontia, Septo-Optic Dysplasia Spectrum | AD | 100 | 279 of 280 |
FLNA | X-Linked Cardiac Valvular Dysplasia, Frontometaphyseal Dysplasia, Periventricular Heterotopia, Chronic Neuronal Intestinal Pseudoobstruction, Melnick-Needles Syndrome, Otopalatodigital Syndrome, Terminal Osseous Dysplasia, Congenital Short Bowel Syndrome, X-linked Ehlers-Danlos Syndrome | X,XR,XD,G | 100 | NA of NA |
FLNB | Atelosteogenesis, Boomerang Dysplasia, Larsen Syndrome, Spondylocarpotarsal Synostosis Syndrome | AD,AR | 100 | 124 of 124 |
FOXF1 | Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins, Congenital Alveolar Capillary Dysplasia | AD | 95.93 | 74 of 96 |
FRAS1 | Fraser Syndrome | AR | 98.73 | 57 of 58 |
FREM1 | Bifid Nose With Or Without Anorectal And Renal Anomalies, Manitoba Oculotrichoanal Syndrome,Trigonocephaly, Bnar Syndrome, Isolated Trigonocephaly, Oculotrichoanal Syndrome | AD,AR | 97.32 | 27 of 30 |
FREM2 | Unilateral Or Bilateral Cryptophthalmos, Fraser Syndrome | AR | 99.92 | 31 of 33 |
GPC3 | Simpson-Golabi–Behmel Syndrome, Wilms Tumor, Nephroblastoma | AD,X,XR,G | 99.84 | NA of NA |
GPC4 | Keipert Syndrome, Simpson-Golabi–Behmel Syndrome | AD,X,XR,G | 98.43 | NA of NA |
GRIP1 | Fraser Syndrome | AR | 100 | 17 of 17 |
H19-ICR | Beckwith-Wiedemann Syndrome, Multiple Tumor-Associated Chromosome Region, Silver-Russell Syndrome | AD | na | na |
HIC1 | Miller-Dieker Syndrome | | 97.7 | NA of NA |
HOXD13 | Brachydactyly-Syndactyly Syndrome, Vacterl/Vater Association | AD | 90.98 | 21 of 31 |
HYLS1 | Hydrolethalus Syndrome, Joubert Syndrome | AR | 100 | 2 of 2 |
IFT80 | Asphyxiating Thoracic Dystrophy, Jeune Syndrome, Short Rib-Polydactyly Syndrome, Verma-Naumoff Type | AR | 99.96 | 16 of 16 |
IFT81 | Short-Rib Thoracic Dysplasia With Or Without Polydactyly | AR | 98.97 | 7 of 9 |
IGF2 | Beckwith-Wiedemann Syndrome, Silver-Russell Syndrome, Wilms Tumor, Isolated Hemihyperplasia | AD,X,XR,G | 100 | 9 of 9 |
ISL1 | Bladder Exstrophy | | 100 | 8 of 10 |
KCNQ1 | Familial Atrial Fibrillation, Beckwith-Wiedemann Syndrome, Jervell And Lange-Nielsen Syndrome, Long QT Syndrome, Short QT Syndrome, Romano-Ward Syndrome | AD,AR | 93.23 | 600 of 624 |
KCNQ1OT1 | Beckwith-Wiedemann Syndrome, Isolated Hemihyperplasia | AD | na | na |
LBR | Hydrops-Ectopic Calcification-Moth-Eaten Skeletal Dysplasia, Pelger-Huet Anomaly, Reynolds Syndrome, Greenberg Dysplasia | AD,AR | 99.98 | 34 of 34 |
LMOD1 | Megacystis–Microcolon-Intestinal Hypoperistalsis Syndrome | | 99.62 | 1 of 1 |
LONP1 | Codas Syndrome | AR | 99.84 | 21 of 21 |
LRP2 | Donnai-Barrow Syndrome | AR | 99.99 | 58 of 58 |
MASP1 | 3mc Syndrome | AR | 100 | 29 of 30 |
MBTPS2 | Ichthyosis Follicularis Atrichia And Photophobia Syndrome, Keratosis Follicularis Spinulosa Decalvans, Osteogenesis Imperfecta Type XIX, Palmoplantar Keratoderma, Bresek Syndrome, Ichthyosis Follicularis-Alopecia-photophobia Syndrome Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques | X,XR,G | 100 | NA of NA |
MKS1 | Bardet-Biedl Syndrome, Joubert Syndrome, Meckel Syndrome | AR | 99.98 | 49 of 49 |
MMP14 | Winchester Syndrome, Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum | | 99.91 | 6 of 6 |
MMP2 | Multicentric Osteolysis Nodulosis And Arthropathy Spectrum | AR | 100 | 24 of 24 |
MTHFR | Homocystinuria Due To Deficiency Of N(5,10)-Methylene Tetrahydrofolate Reductase Activity, Neural Tube Defects, Thrombophilia, Isolated Anencephaly, Isolated Exencephaly | AD,AR | 100 | 122 of 122 |
MYH11 | Familial Thoracic Aortic Aneurysm, Familial Aortic Dissection, Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome | AD | 100 | 67 of 67 |
MYLK | Familial Thoracic Aortic Aneurysm, Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome | AD | 99.95 | 50 of 50 |
NEK9 | Arthrogryposis, Perthes Disease And Upward Gaze Palsy, Lethal Congenital Contracture Syndrome, Nevus Comedonicus Syndrome | AR | 99.98 | 4 of 4 |
NFIX | Marshall-Smith Syndrome, Sotos Syndrome, 19p13.3 Microduplication Syndrome, Malan Overgrowth Syndrome, Marshall-Smith Syndrome | AD | 94.42 | 75 of 81 |
NXN | Autosomal Recessive Robinow Syndrome | AR | 98.03 | 2 of 4 |
PAFAH1B1 | Lissencephaly, 17p13.3 Microduplication Syndrome, Miller-Dieker Syndrome | AD | 99.95 | 90 of 92 |
PIGN | Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome, Fryns Syndrome | AR | 93.97 | 36 of 39 |
PIGY | Hyperphosphatasia With Mental Retardation Syndrome, Hyperphosphatasia-Intellectual Disability Syndrome | AR | 100 | 1 of 2 |
PORCN | Focal Dermal Hypoplasia | X,XD,G | 100 | NA of NA |
PPP1R12A | Genitourinary And/Or/Brain Malformation Syndrome | AD | 99.48 | 1 of 1 |
PPP2R3C | Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy, Spermatogenic Failure | AD,AR | 99.85 | 3 of 3 |
PTCH1 | Basal Cell Nevus Syndrome, Holoprosencephaly, Alobar Holoprosencephaly, Gorlin Syndrome, Lobar Holoprosencephaly, Microform Holoprosencephaly, Midline Interhemispheric Variant Of Holoprosencephaly, Monosomy 9q22.3, Semilobar Holoprosencephaly, Septopreoptic Holoprosencephaly | AD | 98.89 | 498 of 502 |
RAB23 | Carpenter Syndrome | AR | 100 | 15 of 15 |
SEMA3E | Charge Syndrome, Hypogonadotropic Hypogonadism Without Anosmia | AD,AR | 99.81 | 6 of 7 |
SF3B4 | Acrofacial Dysostosis, Nager Syndrome | AD | 94.86 | 33 of 40 |
SPECC1L | Facial Clefting, Oblique, Hypertelorism, Opitz Gbbb Syndrome, Autosomal Dominant | AD | 99.66 | 14 of 14 |
THRA | Congenital Nongoitrous Hypothyroidism | AD | 100 | 24 of 24 |
TP63 | Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate, Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome, Limb-Mammary Syndrome, Rapp-Hodgkin Syndrome, Split-Hand/Foot Malformation, Adult Syndrome, Palate Syndrome, Bladder Exstrophy | AD | 99.98 | 144 of 144 |
TSHB | Congenital Nongoitrous Hypothyroidism, Isolated Thyroid-stimulating Hormone Deficiency | AR | 100 | 12 of 13 |
TTC7A | Gastrointestinal Defects And Immunodeficiency Syndrome, Combined Immunodeficiency- Enteropathy Spectrum, Multiple Intestinal Atresia | AR | 100 | 44 of 45 |
TWIST2 | Ablepharon-Macrostomia Syndrome, Barber-Say Syndrome, Focal Facial Dermal Dysplasia | AD,AR | 99.82 | 9 of 9 |
VANGL2 | Neural Tube Defects, Isolated Anencephaly, Isolated Exencephaly | AD | 99.98 | 12 of 12 |
WDR35 | Cranioectodermal Dysplasia, Short-Rib Thoracic Dysplasia With Or Without Polydactyly, Cranioectodermal Dysplasia, Short Rib-Polydactyly Syndrome, Verma-Naumoff Type | AR | 100 | 31 of 33 |
WNT3 | Tetraamelia-Multiple Malformations Syndrome | AR | 100 | 2 of 2 |
YWHAE | 17p13.3 Microduplication Syndrome, Miller-Dieker Syndrome | | 98.99 | 0 of 1 |
ZIC3 | X-linked Visceral Heterotaxy, Vacterl Association With Hydrocephalus | X,XR,G | 99.98 | NA of NA |