Gene table



Gene symbol and protein
Gene Location
All allelic disease phenotypes - locus/disease symbols

OPA1
optic atrophy 1(M)



3q28-q29
* Progressive external ophthalmoplegia with optic atrophy, optic atrophy 1 with de - (16.25)

OPTN
Optineurin



10p14
* Amyotrophic lateral sclerosis 12 - ALS12 (12.50)

ORAI1
ORAI calcium release-activated calcium modulator 1



12q24.31
* Tubular aggregate myopathy 2 - TAM2 (16.27)