Section for Clinical Neurogenetics
(University of Tübingen)
General information
Section for Clinical Neurogenetics
University of Tübingen
Tuebingen
Germany - 72076
Organization ID: 507314
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 79
Gene
| Gene | Submissions | Last Updated |
|---|
| ACO2 | 1 | Nov 26, 2019 |
| ADAT3 | 1 | Nov 26, 2019 |
| ALS2 | 1 | Nov 26, 2019 |
| AMPD2 | 1 | Nov 26, 2019 |
| APTX | 1 | Nov 26, 2019 |
| B4GALNT1 | 1 | Nov 26, 2019 |
| BCAS3 | 13 | Mar 28, 2021 |
| BCAS3-AS1 | 5 | Jan 16, 2021 |
| CAPN1 | 1 | Nov 26, 2019 |
| CLCN1 | 1 | Nov 26, 2019 |
| CNTNAP1 | 1 | Nov 26, 2019 |
| DNAJC6 | 1 | Nov 26, 2019 |
| GAMT | 1 | Nov 26, 2019 |
| GPT2 | 1 | Nov 26, 2019 |
| KCNQ2 | 1 | Nov 26, 2019 |
| KIF11 | 1 | Nov 26, 2019 |
| LCA5 | 1 | Nov 26, 2019 |
| LOC130007700 | 1 | Nov 26, 2019 |
| LOC130056973 | 1 | Nov 26, 2019 |
| MAF | 1 | Nov 26, 2019 |
| MCOLN1 | 1 | Nov 26, 2019 |
| MECP2 | 1 | Nov 26, 2019 |
| MFN2 | 1 | Nov 26, 2019 |
| MTMR2 | 1 | Nov 26, 2019 |
| NT5C2 | 1 | Nov 26, 2019 |
| NTRK1 | 1 | Nov 26, 2019 |
| PAX7 | 1 | Nov 26, 2019 |
| PEX1 | 1 | Nov 26, 2019 |
| POLR3A | 1 | Nov 26, 2019 |
| PRICKLE1 | 1 | Nov 26, 2019 |
| PRKN | 1 | Nov 26, 2019 |
| PRX | 1 | Nov 26, 2019 |
| SCAMP4 | 1 | Nov 26, 2019 |
| SCAPER | 1 | Nov 26, 2019 |
| SEPSECS | 1 | Nov 26, 2019 |
| SGCG | 1 | Nov 26, 2019 |
| SGSH | 1 | Nov 26, 2019 |
| SLC25A15 | 1 | Nov 26, 2019 |
| SPG11 | 1 | Nov 26, 2019 |
| SYNJ1 | 1 | Nov 26, 2019 |
| TMCO1 | 1 | Nov 26, 2019 |
| TSEN54 | 1 | Nov 26, 2019 |
| UGDH | 23 | Nov 26, 2019 |
| VWA1 | 6 | Mar 6, 2020 |
| WWOX | 1 | Nov 26, 2019 |
Condition
| Name | Submissions | Last Updated | | Amyotrophic lateral sclerosis type 2, juvenile | 1 | Nov 26, 2019 |
| Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | 1 | Nov 26, 2019 |
| Autosomal recessive juvenile Parkinson disease 2 | 1 | Nov 26, 2019 |
| Autosomal recessive limb-girdle muscular dystrophy type 2C | 1 | Nov 26, 2019 |
| Autosomal recessive spastic paraplegia type 76 | 1 | Nov 26, 2019 |
| Autosomal recessive spinocerebellar ataxia 12 | 1 | Nov 26, 2019 |
| Charcot-Marie-Tooth disease type 4B1 | 1 | Nov 26, 2019 |
| Charcot-Marie-Tooth disease type 4F | 1 | Nov 26, 2019 |
| Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; | 1 | Nov 26, 2019 |
| Congenital myotonia, autosomal recessive form | 1 | Nov 26, 2019 |
| Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 | 1 | Nov 26, 2019 |
| Deficiency of guanidinoacetate methyltransferase | 1 | Nov 26, 2019 |
| Developmental and epileptic encephalopathy, 53 | 1 | Nov 26, 2019 |
| Developmental and epileptic encephalopathy, 7 | 1 | Nov 26, 2019 |
| Epilepsy, progressive myoclonic, 1B | 1 | Nov 26, 2019 |
| Epileptic encephalopathy | 23 | Nov 26, 2019 |
| Global developmental delay | 13 | Mar 28, 2021 |
| Glutamate pyruvate transaminase 2 deficiency | 1 | Nov 26, 2019 |
| Hereditary insensitivity to pain with anhidrosis | 1 | Nov 26, 2019 |
| Hereditary spastic paraplegia 11 | 1 | Nov 26, 2019 |
| Hereditary spastic paraplegia 26 | 1 | Nov 26, 2019 |
| Hereditary spastic paraplegia 45 | 1 | Nov 26, 2019 |
| Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | 1 | Nov 26, 2019 |
| Infantile cerebellar-retinal degeneration | 1 | Nov 26, 2019 |
| Intellectual developmental disorder and retinitis pigmentosa; IDDRP | 1 | Nov 26, 2019 |
| Intellectual disability-strabismus syndrome | 1 | Nov 26, 2019 |
| Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome | 1 | Nov 26, 2019 |
| Leber congenital amaurosis 5 | 1 | Nov 26, 2019 |
| Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | 1 | Nov 26, 2019 |
| Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | 1 | Nov 26, 2019 |
| Mucolipidosis type IV | 1 | Nov 26, 2019 |
| Mucopolysaccharidosis, MPS-III-A | 1 | Nov 26, 2019 |
| Myopathy, congenital, progressive, with scoliosis | 1 | Nov 26, 2019 |
| Neuromuscular disease | 6 | Mar 6, 2020 |
| Neuropathy, congenital hypomyelinating, 3 | 1 | Nov 26, 2019 |
| Peroxisome biogenesis disorder 1A (Zellweger) | 1 | Nov 26, 2019 |
| Pontocerebellar hypoplasia type 2D | 1 | Nov 26, 2019 |
| Pontocerebellar hypoplasia type 9 | 1 | Nov 26, 2019 |
| Pontoneocerebellar hypoplasia | 1 | Nov 26, 2019 |
| Rett syndrome | 1 | Nov 26, 2019 |
