GENE | OMIM DISEASES | INHERITANCE* | % GENE COVERAGE | HGMD** |
ACE | Renal Tubular Dysgenesis | AR | 88.42 | 40 of 44 |
AGT | Essential Hypertension, Renal Tubular Dysgenesis | AR,MU | 100 | 16 of 18 |
AGTR1 | Essential Hypertension, Renal Tubular Dysgenesis | AR,MU | 100 | 8 of 8 |
ALB | Congenital Analbuminemia | AR | 100 | 41 of 41 |
ALG8 | Congenital Disorder Of Glycosylation Type Ih, Polycystic Liver Disease With Or Without Kidney Cysts | AD,AR | 99.5 | 22 of 22 |
ALG9 | Congenital Disorder Of Glycosylation, Type Il, Polycystic Kidney Disease Potter Type I, With Microbrachycephaly, Hypertelorism And Brachymelia | AR | 99.99 | 6 of 6 |
ALX4 | Craniosynostosis, Enlarged Parietal Foramina, Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome, Isolated Scaphocephaly, Potocki-Shaffer Syndrome | AD,AR | 99.94 | 25 of 25 |
AMER1 | Osteopathia Striata With Cranial Sclerosis Syndrome | X,XD,G | 99.45 | NA of NA |
ASCL1 | Congenital Failure of Autonomic Control, Haddad Syndrome | AD | 97.86 | 1 of 4 |
ATRX | Alpha-Thalassemia Myelodysplasia Syndrome, Mental Retardation-Hypotonic Facies Syndrome, Carpenter-Waziri Syndrome, Chudley-Lowry-Hoar Syndrome, Holmes-Gang Syndrome, Juberg-Marsidi Syndrome, Smith-Fineman-Myers Syndrome | X,XR,XD,G | 98.5 | NA of NA |
B9D1 | Joubert Syndrome, Meckel Syndrome | AR | 90.23 | 11 of 11 |
B9D2 | Meckel Syndrome | AR | 84.81 | 4 of 5 |
BMPER | Diaphanospondylodysostosis | AR | 99.98 | 22 of 22 |
BNC2 | Congenital Lower Urinary Tract Obstruction, Posterior Urethral Valve | AD | 98.85 | 14 of 14 |
BRCA1 | Fanconi Anemia Complementation Group S | AD,AR,MU | 98.97 | 2783 of 2894 |
BRCA2 | Fanconi Anemia Complementation Group D1, Medulloblastoma, Wilms Tumor, Nephroblastoma | AD,AR,MU | 98.51 | 3343 of 3451 |
BRIP1 | Fanconi Anemia Complementation Group J | AD,AR | 94.97 | 235 of 237 |
BUB1B | Mosaic Variegated Aneuploidy Syndrome | AD,AR | 99.84 | 30 of 31 |
C1QBP | Combined Oxidative Phosphorylation Deficiency | AR | 99.89 | 6 of 6 |
CC2D2A | Coach Syndrome, Joubert Syndrome, Meckel Syndrome, | AR | 99.43 | 98 of 100 |
CEP290 | Bardet-Biedl Syndrome, Joubert Syndrome, Leber Congenital Amaurosis, Meckel Syndrome, Senior-Loken Syndrome | AR | 96.47 | 293 of 327 |
CEP55 | Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia And Hydranencephaly, Meckel Syndrome | AR | 99.22 | 3 of 3 |
CERT1 | Autosomal Dominant Mental Retardation | AD | 99.98 | 8 of 8 |
CHRM3 | Absence of Abdominal Muscles With Urinary Tract Abnormality And Cryptorchidism, Prune Belly Syndrome | AR | 99.8 | 4 of 4 |
CLTCL1 | | | 100 | 22 of 22 |
COG5 | Congenital Disorder Of Glycosylation Type III | AR | 100 | 19 of 19 |
COQ2 | Coenzyme Q10 Deficiency, Multiple System Atrophy, Leigh Syndrome With Nephrotic Syndrome | AD,AR | 99.61 | 37 of 38 |
COQ7 | Primary Coenzyme Q10 Deficiency | AR | 99.71 | 6 of 6 |
CPT2 | Carnitine Palmitoyltransferase II Deficiency | AD,AR | 99.99 | 116 of 116 |
CSPP1 | Joubert Syndrome, Meckel Syndrome | AR | 98.32 | 29 of 30 |
DHPS | Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment | AR | 99.85 | 4 of 4 |
DOCK6 | Adams-Oliver Syndrome | AR | 98.06 | 37 of 37 |
DONSON | Microcephaly-Micromelia Syndrome | AR | 98.14 | 26 of 27 |
EFEMP2 | Autosomal Recessive Cutis Laxa | AR | 99.99 | 17 of 17 |
ERCC4 | Fanconi Anemia Complementation Group Q, Xeroderma Pigmentosum Complementation Group F, Progeroid Syndrome, Cockayne Syndrome Type 1 | AR | 99.68 | 69 of 72 |
ERGIC1 | Arthrogryposis Multiplex Congenita | AR | 100 | 2 of 2 |
EXOSC9 | Pontocerebellar Hypoplasia Type 1d | AR | 99.86 | 2 of 2 |
FANCA | Fanconi Anemia | AR | 95.17 | 497 of 502 |
FANCB | Fanconi Anemia Complementation Group B, Vacterl Association With Hydrocephalus | X,XR,G | 95.53 | NA of NA |
FANCC | Fanconi Anemia Complementation Group C | AR | 100 | 75 of 75 |
FANCD2 | Fanconi Anemia Complementation Group D2 | AR | 100 | 62 of 63 |
FANCE | Fanconi Anemia Complementation Group E | AR | 97 | 17 of 18 |
FANCF | Fanconi Anemia Complementation Group F | AR | 99.31 | 17 of 18 |
FANCG | Fanconi Anemia Complementation Group G | | 100 | 94 of 94 |
FANCI | Fanconi Anemia Complementation Group I | AR | 100 | 53 of 54 |
FANCL | Fanconi Anemia Complementation Group L | AR | 100 | 25 of 26 |
FANCM | Fanconi Anemia, Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation | AR | 99.73 | 59 of 61 |
FARSB | Rajab Interstitial Lung Disease With Brain Calcifications | AR | 99.94 | 4 of 4 |
FBLN5 | Autosomal Dominant and Recessive Cutis Laxa | AD,AR | 97.43 | 23 of 23 |
FBN1 | Acromicric Dysplasia, Ectopia Lentis, Geleophysic Dysplasia, Marfan Lipodystrophy Syndrome, Marfan Syndrome, Mass Syndrome, Stiff Skin Syndrome, Weill-Marchesani Syndrome, Shprintzen-Goldberg Syndrome | AD | 100 | 2836 of 2845 |
FGF20 | Bilateral Renal Hypodysplasia/Aplasia | AR | 99.76 | 2 of 2 |
GATA6 | Atrial Septal Defect, Atrioventricular Septal Defect, Conotruncal Heart Malformations, Truncus Arteriosus Communis, Pancreatic Agenesis And Congenital Heart Defects, Tetralogy Of Fallot | AD,AR | 84.19 | 66 of 84 |
GLI3 | Greig Cephalopolysyndactyly Syndrome, Congenital Hypothalamic Hamartoma Syndrome, Pallister-Hall Syndrome, Acrocallosal Syndrome | AD,AR | 100 | 231 of 231 |
GMPPB | Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eyeanomalies), Congenital Muscular Dystrophy With Cerebellar Involvement, Congenital Myasthenic Syndromes With Glycosylation Defect, Limb-Girdle Muscular Dystrophy, Muscle-Eye-Brain Disease | AR | 99.95 | 53 of 53 |
GNPTAB | Mucolipidosis II Alpha/Beta, Mucolipidosis III Alpha/Beta | AR | 100 | 279 of 280 |
GREB1L | Bilateral Renal Hypodysplasia/Aplasia | AD | 97.94 | 41 of 41 |
HBA1 | Alpha-thalassemia, Heinz Body Anemia, Hemoglobin H Disease, Hb Bart’s Hydrops Fetalis | AD | 98.87 | 125 of 152 |
HBA2 | Alpha-thalassemia, Heinz Body Anemias, Hemoglobin H Disease, Hb Bart’s Hydrops Fetalis | AD | 74.46 | 118 of 231 |
HNF1B | Noninsulin-Dependent Diabetes Mellitus, Renal Cysts And Diabetes Syndrome, Hnf1b-Related Autosomal Dominant Tubulointerstitial Kidney Disease | AD | 100 | 219 of 220 |
HSPA9 | Sideroblastic Anemia, Even-Plus Syndrome | AD,AR | 99.72 | 14 of 14 |
HYMAI | Transient Neonatal Diabetes Mellitus, Paternal Uniparental Disomy Of Chromosome | AD | na | na |
INVS | Nephronophthisis, Senior-Loken Syndrome | AR | 99.9 | 38 of 38 |
ITGA8 | Bilateral Renal Hypodysplasia/Aplasia | AR | 99.68 | 7 of 7 |
KIF14 | Meckel Syndrome, Autosomal Recessive Primary Microcephaly | AR | 99.84 | 18 of 18 |
LARS2 | Hydrops, Lactic Acidosis, And Sideroblastic Anemia, Perrault Syndrome | AR | 99.99 | 20 of 20 |
LHX1 | 17q12 Microdeletion Syndrome | | 100 | 6 of 6 |
LIFR | Stuve-Wiedemann Syndrome | AR | 99.81 | 33 of 33 |
MAD2L2 | Fanconi Anemia Complementation Group V | AR | 99.91 | 1 of 1 |
MBTPS2 | Ichthyosis Follicularis, Atrichia, And Photophobia Syndrome, Keratosis Follicularis Spinulosa Decalvans, Osteogenesis Imperfecta, Type XIX, Bresek Syndrome | X,XR,G | 100 | NA of NA |
MKS1 | Bardet-Biedl Syndrome, Joubert Syndrome, Meckel Syndrome | AR | 99.98 | 49 of 49 |
MYH3 | Arthrogryposis, Contractures, Pterygia And Spondylocarpostarsal Fusion Syndrome, Digitotalar Dysmorphism, Freeman-Sheldon Syndrome, Sheldon-Hall Syndrome | AD,AR | 100 | 46 of 47 |
NALCN | Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay, Digitotalar Dysmorphism, Freeman-Sheldon Syndrome | AD,AR | 99.97 | 69 of 69 |
NEK8 | Nephronophthisi, Renal-Hepatic-Pancreatic Dysplasia | AR | 100 | 24 of 24 |
NEK9 | Arthrogryposis, Perthes Disease, And Upward Gaze Palsy, Lethal Congenital Contracture Syndrome | AR | 99.98 | 4 of 4 |
NPHP3 | Meckel Syndrome, Nephronophthisis, Renal-Hepatic-Pancreatic Dysplasia , NPHP3-Related Meckel-like Syndrome, Senior-Loken Syndrome | AR | 99.99 | 84 of 84 |
OSGEP | Galloway-Mowat Syndrome | AR | 99.17 | 19 of 19 |
PALB2 | Fanconi Anemia Complementation Group N | AD,AR | 98.78 | 601 of 617 |
PBX1 | Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay | AD | 98 | 18 of 18 |
PDSS2 | Coenzyme Q10 Deficiency, Leigh Syndrome With Nephrotic Syndrome | AR | 99.99 | 6 of 6 |
PGAP2 | Hyperphosphatasia With Mental Retardation Syndrome | AR | 99.99 | 11 of 11 |
PGAP3 | Hyperphosphatasia With Mental Retardation Syndrome | AR | 97 | 19 of 20 |
PHOX2B | Congenital Failure of Autonomic Control, Neuroblastoma With Hirschsprung Disease, Haddad Syndrome, Ondine Syndrome | AD | 90.74 | 58 of 71 |
PIGL | Zunich Neuroectodermal Syndrome, Chime Syndrome, Hyperphosphatasia-Intellectual Disability Syndrome | AR | 86 | 11 of 13 |
PIGO | Hyperphosphatasia With Mental Retardation Syndrome | AR | 99.93 | 21 of 21 |
PIGV | Hyperphosphatasia With Mental Retardation | AR | 99.99 | 16 of 16 |
PIGW | Hyperphosphatasia With Mental Retardation Syndrome | AR | 99.52 | 6 of 6 |
PIGY | Hyperphosphatasia With Mental Retardation Syndrome | AR | 100 | 1 of 2 |
PKHD1 | Autosomal Recessive Polycystic Kidney Disease | AR | 99.97 | 582 of 585 |
PLAGL1 | Paternal Uniparental Disomy Of Chromosome | | 95.56 | 2 of 2 |
POR | Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis, Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency | AD,AR | 99.98 | 67 of 68 |
PUF60 | Verheij Syndrome, 8q24.3 Microdeletion Syndrome, Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome | AD | 100 | 30 of 30 |
RAD51 | Fanconi Anemia Complementation Group R, Familial Congenital Mirror Movements | AD | 99.98 | 16 of 16 |
RAD51C | Fanconi Anemia Complementation Group O | AR | 100 | 130 of 130 |
REN | Familial Juvenile Hyperuricemic Nephropathy, Renal Tubular Dysgenesis | AD,AR | 100 | 23 of 23 |
RET | Congenital Failure of Autonomic Control, Hirschsprung Disease, Haddad Syndrome, Hirschsprung Disease, Bilateral Renal Agenesis | AD | 100 | 453 of 454 |
RFWD3 | Fanconi Anemia Complementation Group W | AR | 99.99 | 2 of 2 |
RNU4ATAC | Lowry-Wood Syndrome, Microcephalic Osteodysplastic Primordial Dwarfism Type I, Roifman Syndrome | AR | na | na |
RPGRIP1 | Cone-Rod Dystrophy, Leber Congenital Amaurosis, Meckel Syndrome | AR | 99.33 | 146 of 159 |
RPGRIP1L | Coach Syndrome, Meckel Syndrome, Joubert Syndrome With Renal Defect, Meckel Syndrome | AR | 99.96 | 52 of 52 |
SEC24D | Cole-Carpenter Syndrome | AR | 99.97 | 14 of 14 |
SLC25A24 | Fontaine Progeroid Syndrome, Gorlin-Chaudhry-Moss Syndrome | AD | 99.59 | 2 of 2 |
SLX4 | Fanconi Anemia Complementation Group P | AR | 99.92 | 76 of 76 |
TALDO1 | Transaldolase Deficiency | AR | 95 | 13 of 14 |
TBCK | Infantile Hypotonia With Psychomotor Retardation And Characteristic Facies | AR | 99.95 | 15 of 15 |
TCTN2 | Joubert Syndrome, Meckel Syndrome | AR | 100 | 14 of 14 |
TCTN3 | Joubert Syndrome, Orofaciodigital Syndrome IV, Orofaciodigital Syndrome Type VI | AR | 99.99 | 13 of 13 |
TMEM107 | Meckel Syndrome, Orofaciodigital Syndrome XVI, Meckel Syndrome | AR | 100 | 3 of 3 |
TMEM216 | Meckel Syndrome, Joubert Syndrome With Oculorenal Defect, Orofaciodigital Syndrome Type VI | AR | 98.74 | 8 of 8 |
TMEM231 | Meckel Syndrome, Joubert Syndrome With Oculorenal Defect, Orofaciodigital Syndrome Type III | AR | 98.63 | 20 of 21 |
TMEM67 | Bardet-Biedl Syndrome, Coach Syndrome, Joubert Syndrome, Meckel Syndrome, Nephronophthisis, Rhyns Syndrome | AR | 96.93 | 177 of 179 |
TMEM70 | Mitochondrial Complex V (ATP Synthase) Deficiency, TMEM70-Related Mitochondrial Encephalo-Cardio-Myopathy | AR | 100 | 22 of 24 |
TRIP4 | Congenital Muscular Dystrophy, Spinal Muscular Atrophy With Congenital Bone Abnormalities | AR | 99.92 | 3 of 3 |
UBE2A | X-linked Syndromic Mental Retardation | X,XR,G | 99.99 | NA of NA |
UBE2T | Fanconi Anemia Complementation Group T | AR | 100 | 4 of 4 |
WDPCP | Bardet-Biedl Syndrome, Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly, Meckel Syndrome | AR | 99.3 | 8 of 8 |
WDR73 | Galloway-Mowat Syndrome, Camos Syndrome | AR | 95.71 | 14 of 14 |
WNT4 | 46,XX Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs, Mullerian Aplasia And Hyperandrogenism, Serkal Syndrome | AD,AR | 100 | 8 of 8 |
XRCC2 | Fanconi Anemia Complementation Group U | AR | 98.39 | 28 of 28 |