1. Name of the Disease (Synonyms):
Choroideremia (Tapetochoroidal dystrophy)
2. OMIM# of the Disease:
303100
3. Name of the Analysed Genes or DNA/Chromosome Segments:
CHM (formerly REP1, GGTA, RAB geranylgeranyl transferase component A or RAB GG transferase)
4. OMIM# of the Gene(s):
300390
Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for mutations in the CHM gene in diagnostic, predictive and prenatal settings and for risk assessment in relatives.
- Mariya Moosajee
- Simon C Ramsden
- Andrew R Webster
