For example: CRYBA1, ZEB2, TBX1, CHANARIN-DORFMAN SYNDROME or Severe Neurodevelopmental Syndrome
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For example: CRYBA1, ZEB2, TBX1, CHANARIN-DORFMAN SYNDROME or Severe Neurodevelopmental Syndrome
| Gene symbol | Genotype | Mutation consequence | Disease | Panel |
|---|---|---|---|---|
| POLG | biallelic | all missense/in frame | MITOCHONDRIAL DNA DEPLETION SYNDROME 4A | |
| POLG | biallelic | all missense/in frame | Mitochondrial DNA depletion syndrome 4A | |
| POLG | biallelic | loss of function | Mitochondrial recessive ataxia syndrome | |
| POLG | monoallelic | all missense/in frame | Progressive external ophthalmoplegia, autosomal dominant 1 |