HACE1
Synonym(s): KIAA1320
Locus: 6q16.3
Protein: E3 ubiquitin-protein ligase HACE1
Tests
| Ataxia Exome Panel method(s): ◦ Sequencing, Next Gen University of Chicago, Genetic Services Laboratory - Chicago, IL, USA |
| Hereditary Spastic Paraplegias (HSP) and Differential Diagnoses Panel method(s): ◦ Sequencing, Next Gen CeGaT GmbH - Tübingen, Germany |
| Epilepsy Exome Panel method(s): ◦ Sequencing, Next Gen University of Chicago, Genetic Services Laboratory - Chicago, IL, USA |
| HACE1 method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Fulgent Diagnostics - Temple City, CA, USA |
| Hereditary spastic paraplegia (HSP), autosomal recessive and X-linked Panel method(s): ◦ Sequencing, Next Gen CeGaT GmbH - Tübingen, Germany |
| Dystonia Exome Panel method(s): ◦ Sequencing, Next Gen University of Chicago, Genetic Services Laboratory - Chicago, IL, USA |
| Epilepsy and Developmental Delay (incl. Epileptic Encephalopathies) (78 Genes, EPI02) method(s): ◦ Sequencing, Next Gen CeGaT GmbH - Tübingen, Germany |