We need your help!
If you’ve ever found our data helpful, please take our impact survey (15 min). Your replies will help keep the data flowing to the scientific community.
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 |