TIMM50

translocase of inner mitochondrial membrane 50
OMIM: 607381, ClinGen, DECIPHER

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Green TIMM50 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Australian Genomics Health Alliance Epilepsy Flagship
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • 3-methylglutaconic aciduria, type IX, MIM#617698