GenomeConnect - GM1
Personnel
- Juliann Savatt, Staff
Phone: 570-214-1721
Email: [email protected]
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 24
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| GLB1-related disorder | 1 | Dec 29, 2021 |
| GM1 gangliosidosis | 13 | Dec 30, 2022 |
| GM1 gangliosidosis type 2 | 1 | Dec 29, 2021 |
| Infantile GM1 gangliosidosis | 2 | Dec 29, 2021 |
| Mitochondrial DNA depletion syndrome 4b | 1 | Apr 22, 2020 |
| Mucopolysaccharidosis, MPS-IV-B | 1 | Apr 22, 2020 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions | 1 | Apr 22, 2020 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | 1 | Apr 22, 2020 |
| Progressive sclerosing poliodystrophy | 1 | Apr 22, 2020 |
| Sandhoff disease | 1 | Apr 22, 2020 |
| Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 1 | Apr 22, 2020 |
| Spinocerebellar ataxia with epilepsy | 1 | Apr 22, 2020 |
| Tay-Sachs disease | 1 | Apr 22, 2020 |
| not provided | 4 | Apr 22, 2020 |