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 |