Arina Puzriakova Added comment: Comment on list classification: Demoted from Green to Red as the disease mechanism is repeat expansion and SNVs are not relevant to FXTAS.
Arina Puzriakova Phenotypes for gene: FMR1 were changed from FMR1-related disorders include fragile X syndrome, fragile X-associated tremor/ataxia syndrome (FXTAS), and FMR1-related premature ovarian insufficiency (POI); FragileXtremor/ataxiasyndrome,300623; males with a tremor phenotype to Fragile X tremor/ataxia syndrome, OMIM:300623