GENE | OMIM DISEASES | INHERITANCE* | % GENE COVERAGE (20X) | HGMD** |
ALG1 | Congenital Disorder Of Glycosylation | AR | 100 | 46 of 46 |
ALG11 | Congenital Disorder Of Glycosylation | AR | 99.91 | 19 of 19 |
ALG12 | Congenital Disorder Of Glycosylation | AR | 100 | 17 of 17 |
ALG13 | Epileptic Encephalopathy, Intellectual Disability | X,XR,XD,G | 99.62 | – |
ALG14 | Myasthenic Syndrome With Glycosylation Defect | AR | 99.99 | 7 of 7 |
ALG2 | Congenital Disorder Of Glycosylation, Myasthenic Syndrome | AR | 99.61 | 7 of 7 |
ALG3 | Congenital Disorder Of Glycosylation | AR | 99.2 | 25 of 25 |
ALG6 | Congenital Disorder Of Glycosylation | AR | 99.91 | 24 of 24 |
ALG8 | Congenital Disorder Of Glycosylation, Polycystic Liver Disease | AD,AR | 99.5 | 22 of 22 |
ALG9 | Congenital Disorder Of Glycosylation, Polycystic Kidney Disease | AR | 99.99 | 6 of 6 |
ATP6AP2 | Congenital Disorder Of Glycosylation, Mental Retardation, Parkinsonism With Spasticity | X,XR,G | 100 | – |
ATP6V0A2 | Cutis Laxa, Wrinkly Skin Syndrome, Congenital Disorder Of Glycosylation | AR | 99.99 | 55 of 55 |
ATP6V1A | Cutis Laxa, Epileptic Encephalopathy | AD,AR | 99.98 | 9 of 9 |
ATP6V1E1 | Cutis Laxa, Congenital Disorder Of Glycosylation | AR | 100 | 2 of 2 |
B4GALT1 | Congenital Disorder Of Glycosylation | AR | 99.97 | 3 of 3 |
CAD | Epileptic Encephalopathy | AR | 100 | 12 of 12 |
CCDC115 | Congenital Disorder Of Glycosylation | AR | 100 | 4 of 4 |
COG1 | Congenital Disorder Of Glycosylation | AR | 99.91 | 3 of 3 |
COG2 | Congenital Disorder Of Glycosylation | AR | 96.97 | 4 of 4 |
COG4 | Congenital Disorder Of Glycosylation, Saul-Wilson Syndrome | AD,AR | 100 | 5 of 5 |
COG5 | Congenital Disorder Of Glycosylation | AR | 100 | 19 of 19 |
COG6 | Congenital Disorder Of Glycosylation, Shaheen Syndrome, Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome | AR | 100 | 13 of 13 |
COG7 | Congenital Disorder Of Glycosylation | AR | 99.94 | 6 of 6 |
COG8 | Congenital Disorder Of Glycosylation | AR | 100 | 8 of 8 |
CRPPA | Limb-Girdle Muscular Dystrophy, Walker-Warburg Syndrome | AR | 97.69 | – |
DAG1 | Limb-Girdle Muscular Dystrophy, Muscle-Eye-Brain Disease, Walker-Warburg Syndrome | AR | 99.98 | 9 of 9 |
DDOST | Congenital Disorder Of Glycosylation | AR | 100 | 2 of 2 |
DOLK | Congenital Disorder Of Glycosylation, Dilated Cardiomyopathy | AR | 99.98 | 13 of 13 |
DPAGT1 | Congenital Disorder Of Glycosylation, Myasthenic Syndrome | AR | 100 | 41 of 41 |
DPM1 | Congenital Disorder Of Glycosylation | AR | 97.25 | 9 of 9 |
DPM2 | Congenital Disorder Of Glycosylation, Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy | AR | 99.87 | 2 of 2 |
DPM3 | Congenital Disorder Of Glycosylation, Lind-Girdle Muscular Dystrophy | AR | 100 | 4 of 4 |
FCSK | Congenital Disorder Of Glycosylation | AR | 97.99 | – |
FKRP | Limb-Girdle Muscular Dystrophy, Muscle-Eye-Brain Disease, Walker-Warburg Syndrome | AR | 99.9 | 157 of 157 |
FKTN | Cardiomyopathy, Lind-Girdle Muscular Dystrophy, Dilated Cardiomyopathy, Muscle-Eye-Brain Disease, Walker- Warburg Syndrome | AR | 98 | 54 of 56 |
FUT8 | Congenital Disorder Of Glycosylation | AR | 99.73 | 4 of 4 |
GALNT2 | Congenital Disorder Of Glycosylation | AR | 99.7 | 7 of 7 |
GFPT1 | Myasthenic Syndrome, Limb-Girdle Muscular Dystrophy | AR | 100 | 57 of 57 |
GMPPB | Limb-Girdle Muscular Dystrophy, Myasthenic Syndrome, Muscle-Eye- Brain Disease | AR | 99.95 | 53 of 53 |
LARGE1 | Limb-Girdle Muscular Dystrophy, Muscle-Eye-Brain Disease, Walker-Warburg Syndrome | AR | 100 | – |
MAGT1 | Congenital Disorder Of Glycosylation, Immunodeficiency, Neoplasia | X,XR,G | 100 | – |
MAN1B1 | Mental Retardation, Congenital Disorder Of Glycosylation | AR | 99.97 | 29 of 30 |
MGAT2 | Congenital Disorder Of Glycosylation | AR | 97.19 | 5 of 5 |
MOGS | Congenital Disorder Of Glycosylation | AR | 100 | 10 of 10 |
MPDU1 | Congenital Disorder Of Glycosylation | AR | 100 | 7 of 7 |
MPI | Congenital Disorder Of Glycosylation | AR | 100 | 20 of 20 |
NGLY1 | Congenital Disorder Of Glycosylation, Alacrimia-Choreoathetosis- Liver Dysfunction Syndrome | AR | 99.8 | 28 of 28 |
NUS1 | Congenital Disorder Of Glycosylation, Mental Retardation, Undetermined Early-Onset Epileptic Encephalopathy | AD,AR | 99.62 | 22 of 23 |
PGM1 | Congenital Disorder Of Glycosylation | AR | 99.96 | 38 of 40 |
PGM3 | Immunodeficiency | AR | 99.99 | 17 of 17 |
PIGG | Mental Retardation, Wolf-Hirschhorn Syndorme | AR | 99.86 | 6 of 6 |
PIGL | Zunich Neuroectodermal Syndrome, Chime Syndrome, Hyperphosphatasia– Intellectual Disability Syndrome | AR | 86 | 11 of 13 |
PIGN | Fryns Syndrome, Multiple Congenital Anomalies-Hypotonia- Seizures Syndrome | AR | 93.97 | 36 of 39 |
PIGT | Multiple Congenital Anomalies-Hypotonia- Seizures Syndrome, Hemoglobinuria | AD,AR | 100 | 15 of 15 |
PMM2 | Congenital Disorder Of Glycosylation | AR | 100 | 127 of 129 |
POMGNT1 | Limb-Girdle Muscular Dystrophy, Retinitis Pigmentosa, Muscle-Eye-Brain Disease, Walker-Warburg Syndrome | AR | 99.91 | 82 of 83 |
POMK | Limb-Girdle Muscular Dystrophy, Walker-Warburg Syndrome | AR | 99.99 | 8 of 8 |
POMT1 | Limb-Girdle Muscular Dystrophy, Muscle-Eye- Brain Disease, Walker- Warburg Syndrome | AR | 100 | 105 of 105 |
POMT2 | Limb-Girdle Muscular Dystrophy, Muscle-Eye- Brain Disease, Walker- Warburg Syndrome | AR | 100 | 74 of 74 |
RFT1 | Congenital Disorder Of Glycosylation | AR | 99.98 | 18 of 18 |
SLC35A1 | Congenital Disorder Of Glycosylation | AR | 100 | 6 of 6 |
SLC35A2 | Congenital Disorder Of Glycosylation | X,XD,G | 99.97 | – |
SLC35C1 | Congenital Disorder Of Glycosylation | AR | 99.73 | 8 of 8 |
SLC39A8 | Congenital Disorder Of Glycosylation | AR | 99.89 | 7 of 7 |
SRD5A3 | Congenital Disorder Of Glycosylation, Kahrizi Syndrome | AR | 100 | 15 of 15 |
SSR4 | Congenital Disorder Of Glycosylation | X,XR,G | 100 | – |
STT3A | Congenital Disorder Of Glycosylation | AR | 99.95 | 4 of 4 |
STT3B | Congenital Disorder Of Glycosylation | AR | 98.71 | 5 of 5 |
TMEM165 | Congenital Disorder Of Glycosylation | AR | 93.69 | 4 of 5 |
TMEM199 | Congenital Disorder Of Glycosylation | AR | 100 | 5 of 5 |