Ege University Pediatric Genetics
(Ege University)
General information
Ege University Pediatric Genetics
Ege University
Kazim Dirik
Izmir
Turkey - 35100
Organization ID: 506131
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 67
Gene
| Gene | Submissions | Last Updated |
|---|
| ABCB11 | 1 | May 19, 2019 |
| ABCB4 | 1 | May 19, 2019 |
| ADA | 1 | May 19, 2019 |
| AGL | 6 | May 19, 2019 |
| AHI1 | 1 | May 19, 2019 |
| AMT | 1 | May 19, 2019 |
| AP4S1 | 1 | Jun 22, 2024 |
| ATM | 2 | May 19, 2019 |
| ATP7A | 1 | May 19, 2019 |
| BBS9 | 1 | Jun 22, 2024 |
| C11orf65 | 1 | May 19, 2019 |
| CLN5 | 1 | May 19, 2019 |
| COL1A1 | 1 | May 19, 2019 |
| COL1A2 | 1 | May 19, 2019 |
| CPT1A | 1 | May 19, 2019 |
| CRLF1 | 1 | May 19, 2019 |
| DBT | 2 | May 19, 2019 |
| DDB2 | 1 | May 19, 2019 |
| EIF5A | 1 | Jun 22, 2024 |
| ERCC8 | 1 | May 19, 2019 |
| ERCC8-AS1 | 1 | May 19, 2019 |
| EVC | 1 | May 19, 2019 |
| FBXL3 | 1 | May 19, 2019 |
| FRAS1 | 1 | May 19, 2019 |
| GALC | 1 | May 19, 2019 |
| GCDH | 2 | May 19, 2019 |
| GJC2 | 1 | May 19, 2019 |
| GLDC | 2 | May 19, 2019 |
| GNPTAB | 1 | May 19, 2019 |
| HEXB | 1 | May 19, 2019 |
| IDUA | 1 | May 19, 2019 |
| KMT2D | 1 | Jun 22, 2024 |
| L1CAM | 2 | May 19, 2019 |
| LAMP2 | 1 | Jun 22, 2024 |
| LOC107303343 | 1 | May 19, 2019 |
| LOC112543470 | 1 | May 19, 2019 |
| LOC130065793 | 1 | May 11, 2022 |
| MPV17 | 2 | May 19, 2019 |
| NAGLU | 2 | May 19, 2019 |
| P3H1 | 1 | May 19, 2019 |
| PCCA | 2 | May 19, 2019 |
| PCDH19 | 1 | May 19, 2019 |
| PDHX | 1 | Jun 22, 2024 |
| PEX1 | 2 | May 19, 2019 |
| PLCE1 | 1 | May 19, 2019 |
| PLEC | 2 | May 19, 2019 |
| POMT1 | 1 | May 19, 2019 |
| PYGM | 1 | May 19, 2019 |
| RAB3GAP1 | 1 | May 19, 2019 |
| RAB5IF | 1 | May 11, 2022 |
| RPS6KA3 | 1 | May 19, 2019 |
| SLC25A20 | 1 | May 19, 2019 |
| SRD5A3 | 1 | May 19, 2019 |
| TGIF2-RAB5IF | 1 | May 11, 2022 |
| TMEM67 | 1 | May 19, 2019 |
| VIPAS39 | 2 | May 19, 2019 |
| XPC | 1 | May 19, 2019 |
| ZFYVE26 | 1 | Jun 22, 2024 |
Condition
| Name | Submissions | Last Updated | | Arthrogryposis, renal dysfunction, and cholestasis 1 | 2 | May 19, 2019 |
| Ataxia telangiectasi | 2 | May 19, 2019 |
| Autosomal recessive limb-girdle muscular dystrophy type 2Q | 2 | May 19, 2019 |
| Bardet-Biedl syndrome 9 | 1 | Jun 22, 2024 |
| Carnitine acylcarnitine translocase deficiency | 1 | May 19, 2019 |
| Carnitine palmitoyl transferase 1A deficiency | 1 | May 19, 2019 |
| Cockayne syndrome type 1 | 1 | May 19, 2019 |
| Coffin-Lowry syndrome | 1 | May 19, 2019 |
| Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 | 1 | May 11, 2022 |
| Crisponi/Cold-induced sweating syndrome | 1 | May 19, 2019 |
| Danon disease | 1 | Jun 22, 2024 |
| Developmental and epileptic encephalopathy, 9 | 1 | May 19, 2019 |
| Ehlers-danlos syndrome, arthrochalasia type, 2 | 1 | May 19, 2019 |
| Ellis-van Creveld syndrome | 1 | May 19, 2019 |
| Faundes-Banka syndrome | 1 | Jun 22, 2024 |
| Fraser syndrome 1 | 1 | May 19, 2019 |
| Galactosylceramide beta-galactosidase deficiency | 1 | May 19, 2019 |
| Glutaric aciduria, type 1 | 2 | May 19, 2019 |
| Glycogen storage disease IIIa | 6 | May 19, 2019 |
| Glycogen storage disease, type V | 1 | May 19, 2019 |
| Hereditary spastic paraplegia 15 | 1 | Jun 22, 2024 |
| Joubert syndrome 3 | 1 | May 19, 2019 |
| Joubert syndrome 6 | 1 | May 19, 2019 |
| Kabuki syndrome 1 | 1 | Jun 22, 2024 |
| L1 syndrome | 2 | May 19, 2019 |
| Maple syrup urine disease type 2 | 2 | May 19, 2019 |
| Menkes kinky-hair syndrome | 1 | May 19, 2019 |
| Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | 2 | May 19, 2019 |
| Mucolipidosis type II | 1 | May 19, 2019 |
| Mucopolysaccharidosis, MPS-I-S | 1 | May 19, 2019 |
| Mucopolysaccharidosis, MPS-III-B | 2 | May 19, 2019 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 | 1 | May 19, 2019 |
| Nephrotic syndrome, type 3 | 1 | May 19, 2019 |
| Neuronal ceroid lipofuscinosis 5 | 1 | May 19, 2019 |
| Non-ketotic hyperglycinemia | 3 | May 19, 2019 |
| Osteogenesis imperfecta | 2 | May 19, 2019 |
| Pelizaeus-Merzbacher disease | 1 | May 19, 2019 |
| Peroxisome biogenesis disorder | 2 | May 19, 2019 |
| Progressive familial intrahepatic cholestasis type 2 | 1 | May 19, 2019 |
| Progressive familial intrahepatic cholestasis type 3 | 1 | May 19, 2019 |
| Propionic acidemia | 2 | May 19, 2019 |
| Pyruvate dehydrogenase E3-binding protein deficiency | 1 | Jun 22, 2024 |
| SRD5A3-congenital disorder of glycosylation | 1 | May 19, 2019 |
| Sandhoff disease | 1 | May 19, 2019 |
| Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | 1 | May 19, 2019 |
| Spastic paraplegia 52, autosomal recessive | 1 | Jun 22, 2024 |
| Warburg micro syndrome 1 | 1 | May 19, 2019 |
| Xeroderma pigmentosum, group C | 1 | May 19, 2019 |
| Xeroderma pigmentosum, group E | 1 | May 19, 2019 |
