Ege University Pediatric Genetics (Ege University)

General information

Ege University Pediatric Genetics
Ege University
Kazim Dirik
Izmir
Turkey - 35100

Organization ID: 506131

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 59

Gene

GeneSubmissionsLast Updated
ABCB111May 19, 2019
ABCB41May 19, 2019
ADA1May 19, 2019
AGL6May 19, 2019
AHI11May 19, 2019
AMT1May 19, 2019
ATM2May 19, 2019
ATP7A1May 19, 2019
C11orf651May 19, 2019
CLN51May 19, 2019
COL1A11May 19, 2019
COL1A21May 19, 2019
CPT1A1May 19, 2019
CRLF11May 19, 2019
DBT2May 19, 2019
DDB21May 19, 2019
ERCC81May 19, 2019
ERCC8-AS11May 19, 2019
EVC1May 19, 2019
FBXL31May 19, 2019
FRAS11May 19, 2019
GALC1May 19, 2019
GCDH2May 19, 2019
GJC21May 19, 2019
GLDC2May 19, 2019
GNPTAB1May 19, 2019
HEXB1May 19, 2019
IDUA1May 19, 2019
L1CAM2May 19, 2019
LOC1073033431May 19, 2019
LOC1125434701May 19, 2019
MPV172May 19, 2019
NAGLU2May 19, 2019
P3H11May 19, 2019
PCCA2May 19, 2019
PCDH191May 19, 2019
PEX12May 19, 2019
PLCE11May 19, 2019
PLEC2May 19, 2019
POMT11May 19, 2019
PYGM1May 19, 2019
RAB3GAP11May 19, 2019
RPS6KA31May 19, 2019
SLC25A201May 19, 2019
SRD5A31May 19, 2019
TMEM671May 19, 2019
VIPAS392May 19, 2019
XPC1May 19, 2019

Condition

NameSubmissionsLast Updated
Arthrogryposis, renal dysfunction, and cholestasis 12May 19, 2019
Ataxia telangiectasi2May 19, 2019
Carnitine acylcarnitine translocase deficiency1May 19, 2019
Carnitine palmitoyltransferase 1A deficiency1May 19, 2019
Cockayne syndrome type A1May 19, 2019
Coffin-Lowry syndrome1May 19, 2019
Congenital disorder of glycosylation type 1Q1May 19, 2019
Crisponi/Cold-induced sweating syndrome1May 19, 2019
Early infantile epileptic encephalopathy 91May 19, 2019
Ehlers-danlos syndrome, arthrochalasia type, 21May 19, 2019
Ellis-van Creveld syndrome1May 19, 2019
Fraser syndrome 11May 19, 2019
Galactosylceramide beta-galactosidase deficiency1May 19, 2019
Glutaric aciduria, type 12May 19, 2019
Glycogen storage disease IIIa6May 19, 2019
Glycogen storage disease, type V1May 19, 2019
Joubert syndrome 31May 19, 2019
Joubert syndrome 61May 19, 2019
L1 syndrome2May 19, 2019
Limb-girdle muscular dystrophy, type 2Q2May 19, 2019
Maple syrup urine disease type 22May 19, 2019
Menkes kinky-hair syndrome1May 19, 2019
Mucolipidosis type II1May 19, 2019
Mucopolysaccharidosis, MPS-I-S1May 19, 2019
Mucopolysaccharidosis, MPS-III-B2May 19, 2019
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 11May 19, 2019
Navajo neurohepatopathy2May 19, 2019
Nephrotic syndrome, type 31May 19, 2019
Neuronal ceroid lipofuscinosis 51May 19, 2019
Non-ketotic hyperglycinemia3May 19, 2019
Osteogenesis imperfecta2May 19, 2019
Pelizaeus-Merzbacher disease1May 19, 2019
Peroxisome biogenesis disorders2May 19, 2019
Progressive familial intrahepatic cholestasis 21May 19, 2019
Progressive familial intrahepatic cholestasis 31May 19, 2019
Propionic acidemia2May 19, 2019
Sandhoff disease1May 19, 2019
Severe combined immunodeficiency due to ADA deficiency1May 19, 2019
Warburg micro syndrome 11May 19, 2019
Xeroderma pigmentosum, group C1May 19, 2019
Xeroderma pigmentosum, group E, DDB-negative subtype1May 19, 2019
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