Search results for POLG

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