Center for Neuroscience and Cell Biology
(University of Coimbra)
General information
Center for Neuroscience and Cell Biology
University of Coimbra
Organization ID: 505672
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 43
Gene
| Gene | Submissions | Last Updated |
|---|
| MEF2C | 3 | Aug 13, 2015 |
| MT-ATP6 | 1 | Nov 24, 2016 |
| MT-ATP8 | 1 | Nov 24, 2016 |
| MT-CO1 | 1 | Nov 24, 2016 |
| MT-CO3 | 1 | Nov 24, 2016 |
| MT-CYB | 7 | Dec 30, 2016 |
| MT-ND1 | 1 | Nov 24, 2016 |
| MT-ND2 | 1 | Nov 24, 2016 |
| MT-ND4 | 12 | Nov 24, 2016 |
| MT-ND5 | 1 | Nov 24, 2016 |
| MT-ND6 | 1 | Nov 24, 2016 |
| MT-TE | 2 | Nov 24, 2016 |
| MT-TL1 | 4 | Nov 24, 2016 |
| MT-TS1 | 2 | Dec 30, 2016 |
| MT-TV | 2 | Nov 24, 2016 |
| NDUFAF5 | 2 | Dec 30, 2016 |
| SURF1 | 1 | Jan 6, 2016 |
Condition
| Name | Submissions | Last Updated | | Atrophy of the brain and cerebellum | 1 | Nov 24, 2016 |
| Autosomal recessive spinocerebellar ataxia 20 | 1 | Dec 30, 2016 |
| Axial hypotonia | 2 | Nov 24, 2016 |
| Bilateral lesions of basal ganglia | 1 | Nov 24, 2016 |
| Calcification of extrapyramidal basal ganglia | 3 | Nov 24, 2016 |
| Congenital cardiomyopathy | 3 | Nov 24, 2016 |
| Dementia | 3 | Nov 24, 2016 |
| Developmental delay | 17 | Nov 24, 2016 |
| Dyssynergia | 2 | Nov 24, 2016 |
| Dystonic disorder | 1 | Nov 24, 2016 |
| Encephalopathy | 3 | Nov 24, 2016 |
| Epilepsy | 8 | Nov 24, 2016 |
| Episodic vomiting | 1 | Nov 24, 2016 |
| Fibrosis | 1 | Nov 24, 2016 |
| Frontotemporal dementia | 2 | Aug 13, 2015 |
| Generalized hypotonia | 1 | Nov 24, 2016 |
| Global developmental delay | 1 | Nov 24, 2016 |
| Hearing impairment | 7 | Nov 24, 2016 |
| Hepatic steatosis | 1 | Nov 24, 2016 |
| Hepatitis | 1 | Nov 24, 2016 |
| Hyperlactaemia | 2 | Nov 24, 2016 |
| Hypotonia | 3 | Nov 24, 2016 |
| Inborn mitochondrial myopathy | 1 | Nov 24, 2016 |
| Leber optic atrophy | 1 | Nov 24, 2016 |
| Leber plus disease | 2 | Dec 30, 2016 |
| Leigh syndrome | 3 | Nov 24, 2016 |
| Macrocephaly | 3 | Nov 24, 2016 |
| Microcephaly | 3 | Nov 24, 2016 |
| Mild liver congestion | 1 | Nov 24, 2016 |
| Mitochondrial cytopathy | 2 | Nov 24, 2016 |
| Mitochondrial encephalopathy | 1 | Nov 24, 2016 |
| Myopathy | 1 | Nov 24, 2016 |
| Myopia | 1 | Nov 24, 2016 |
| Neuromuscular disease | 1 | Nov 24, 2016 |
| Optic atrophy | 1 | Nov 24, 2016 |
| Optic neuropathy | 2 | Nov 24, 2016 |
| Parkinsonism-plus | 1 | Nov 24, 2016 |
| Peripheral neuropathy | 1 | Nov 24, 2016 |
| Progressive external ophthalmoplegia | 1 | Dec 30, 2016 |
| Reduced visual acuity | 1 | Nov 24, 2016 |
| Sensorineural hearing loss disorder | 1 | Nov 24, 2016 |
| Sudden death | 1 | Nov 24, 2016 |
| not specified | 1 | Aug 13, 2015 |
