Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory
(Koc University), NDAL
General information
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, NDAL
Koc University
Koc University Hospital 5th Floor KUTTAM-NDAL
Istanbul
Turkey - 34010
Organization ID: 507533
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 200
Gene
| Gene | Submissions | Last Updated |
|---|
| ADAM7 | 1 | Apr 15, 2020 |
| ADAM7-AS1 | 1 | Apr 15, 2020 |
| ALS2 | 4 | Apr 15, 2020 |
| ANG | 2 | Apr 15, 2020 |
| AOPEP | 1 | Apr 14, 2023 |
| APP | 1 | Jun 20, 2023 |
| APTX | 2 | Jan 18, 2022 |
| ATP2A1 | 1 | Aug 7, 2023 |
| C19orf12 | 2 | Apr 15, 2020 |
| CHCHD10 | 1 | Apr 15, 2020 |
| CHRNA3 | 5 | Apr 15, 2020 |
| CHRNA4 | 4 | Apr 15, 2020 |
| CHRNB4 | 3 | Apr 15, 2020 |
| DAO | 4 | Apr 15, 2020 |
| DCTN1 | 5 | Apr 15, 2020 |
| DNAJB2 | 2 | Apr 15, 2020 |
| DSTYK | 1 | Jan 18, 2022 |
| EGILA | 2 | Apr 15, 2020 |
| EIF4G1 | 1 | Jan 18, 2022 |
| ELP3 | 1 | Apr 15, 2020 |
| ERBB4 | 5 | Apr 15, 2020 |
| ERLIN1 | 1 | Apr 15, 2020 |
| FBXO38 | 1 | Apr 15, 2020 |
| FIG4 | 4 | Apr 15, 2020 |
| FKBP15 | 2 | Apr 15, 2020 |
| FLCN | 1 | Jun 14, 2023 |
| FUS | 7 | Apr 15, 2020 |
| GCH1 | 1 | Jan 18, 2022 |
| GREM2 | 1 | Apr 15, 2020 |
| GRN | 1 | Jun 20, 2023 |
| HTRA1 | 1 | Jan 4, 2022 |
| IGHMBP2 | 1 | Apr 15, 2020 |
| KIF5A | 1 | Apr 15, 2020 |
| KRT15 | 1 | Apr 15, 2020 |
| KRT19 | 1 | Apr 15, 2020 |
| LMNA | 1 | Jun 21, 2023 |
| LOC108903148 | 1 | Apr 15, 2020 |
| LOC126862565 | 1 | Apr 15, 2020 |
| LRRK2 | 1 | Jan 18, 2022 |
| NEK1 | 1 | Apr 15, 2020 |
| OPTN | 5 | Jul 6, 2021 |
| OR9G1 | 1 | Apr 15, 2020 |
| PARK7 | 4 | Jan 18, 2022 |
| PDZD2 | 5 | Apr 15, 2020 |
| PEX16 | 1 | May 24, 2023 |
| PFN1 | 1 | Apr 15, 2020 |
| PLEKHG5 | 2 | Apr 15, 2020 |
| PNPLA6 | 3 | Apr 15, 2020 |
| PON1 | 1 | Apr 15, 2020 |
| PON3 | 1 | Apr 15, 2020 |
| PRKN | 3 | Jan 18, 2022 |
| PRNP | 1 | Jun 20, 2023 |
| PRPH | 1 | Apr 15, 2020 |
| PSEN1 | 2 | Jun 20, 2023 |
| RNASE4 | 2 | Apr 15, 2020 |
| SC5D | 2 | Apr 15, 2020 |
| SETX | 3 | Apr 15, 2020 |
| SIGMAR1 | 2 | Apr 15, 2020 |
| SLC52A3 | 1 | Apr 15, 2020 |
| SOD1 | 20 | Apr 24, 2023 |
| SOD1-DT | 4 | Apr 15, 2020 |
| SPECC1 | 1 | Apr 15, 2020 |
| SPG11 | 4 | Apr 15, 2020 |
| SPG7 | 1 | Nov 20, 2023 |
| SQSTM1 | 1 | Apr 15, 2020 |
| SYNE1 | 7 | Apr 15, 2020 |
| TARDBP | 7 | May 5, 2023 |
| TBK1 | 2 | Apr 15, 2020 |
| TFG | 1 | Apr 15, 2020 |
| TROAP-AS1 | 1 | Apr 15, 2020 |
| TRPM7 | 1 | Apr 15, 2020 |
| TRPV4 | 1 | Apr 15, 2020 |
| UBQLN2 | 2 | Apr 15, 2020 |
| VCP | 5 | Apr 15, 2020 |
| VRK1 | 2 | Apr 15, 2020 |
| ZFYVE26 | 2 | Apr 15, 2020 |
Condition
| Name | Submissions | Last Updated | | Alzheimer disease 3 | 2 | Jun 20, 2023 |
| Alzheimer disease type 1 | 1 | Jun 20, 2023 |
| Amyotrophic Lateral Sclerosis with Sensory Neuropathy | 1 | Apr 15, 2020 |
| Amyotrophic lateral sclerosis | 37 | Apr 15, 2020 |
| Amyotrophic lateral sclerosis type 1 | 20 | Apr 24, 2023 |
| Amyotrophic lateral sclerosis type 10 | 7 | May 5, 2023 |
| Amyotrophic lateral sclerosis type 12 | 5 | Jul 6, 2021 |
| Amyotrophic lateral sclerosis type 15 | 2 | Apr 15, 2020 |
| Amyotrophic lateral sclerosis type 16 | 2 | Apr 15, 2020 |
| Amyotrophic lateral sclerosis type 19 | 1 | Apr 15, 2020 |
| Amyotrophic lateral sclerosis type 2, juvenile | 4 | Apr 15, 2020 |
| Amyotrophic lateral sclerosis type 4 | 1 | Apr 15, 2020 |
| Amyotrophic lateral sclerosis type 5 | 4 | Apr 15, 2020 |
| Amyotrophic lateral sclerosis type 6 | 5 | Apr 15, 2020 |
| Amyotrophic lateral sclerosis type 9 | 1 | Apr 15, 2020 |
| Amyotrophic lateral sclerosis-parkinsonism-dementia complex | 1 | Apr 15, 2020 |
| Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | 2 | Jan 18, 2022 |
| Autosomal dominant Parkinson disease 8 | 1 | Jan 18, 2022 |
| Autosomal recessive distal spinal muscular atrophy 1 | 1 | Apr 15, 2020 |
| Autosomal recessive early-onset Parkinson disease 7 | 2 | Jan 18, 2022 |
| Autosomal recessive juvenile Parkinson disease 2 | 3 | Jan 18, 2022 |
| Birt-Hogg-Dube syndrome | 1 | Jun 14, 2023 |
| Brody myopathy | 1 | Aug 7, 2023 |
| CARASIL syndrome | 1 | Jan 4, 2022 |
| Dystonia 31 | 1 | Apr 14, 2023 |
| Dystonia 5 | 1 | Jan 18, 2022 |
| Emery-Dreifuss muscular dystrophy 2, autosomal dominant | 1 | Jun 21, 2023 |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | 1 | Apr 15, 2020 |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 | 3 | Apr 15, 2020 |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 | 3 | Apr 15, 2020 |
| GRN-related frontotemporal lobar degeneration with Tdp43 inclusions | 1 | Jun 20, 2023 |
| Gerstmann-Straussler-Scheinker syndrome | 1 | Jun 20, 2023 |
| Hereditary spastic paraplegia 15 | 2 | Apr 15, 2020 |
| Hereditary spastic paraplegia 23 | 1 | Jan 18, 2022 |
| Hereditary spastic paraplegia 7 | 1 | Nov 20, 2023 |
| Juvenile amyotrophic lateral sclerosis | 9 | Apr 15, 2020 |
| Juvenile-onset Parkinson disease | 2 | Jan 18, 2022 |
| Madras motor neuron disease | 1 | Apr 15, 2020 |
| Motor neuron disease | 1 | Jan 18, 2022 |
| Neurodegeneration with brain iron accumulation 4 | 2 | Apr 15, 2020 |
| Neuronopathy, distal hereditary motor, autosomal recessive 5 | 2 | Apr 15, 2020 |
| Neuronopathy, distal hereditary motor, type 2D | 1 | Apr 15, 2020 |
| Parkinson disease 18, autosomal dominant, susceptibility to | 1 | Jan 18, 2022 |
| Peroxisome biogenesis disorder 8B | 1 | May 24, 2023 |
| Scapuloperoneal spinal muscular atrophy | 1 | Apr 15, 2020 |
| Spinal muscular atrophy | 1 | Apr 15, 2020 |
| not specified | 57 | Apr 15, 2020 |
