Hereditary ataxia
Gene: FMR1Comment when marking as ready: some sequence changes, intragenic mutations and del and dup reportedCreated: 11 Jul 2016, 4:09 a.m.
F-XTAS. Repeat expansion. NOT APPROPRIATECreated: 24 Nov 2015, 4:57 p.m.
Phenotypes
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
Mode of pathogenicity
Other - please provide details in the comments
Mode of inheritance for FMR1 was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
This gene has been classified as Green List (High Evidence).
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
FMR1 was added to Hereditary ataxiapanel. Sources: Eligibility statement prior genetic testing
FMR1 was added to Hereditary ataxiapanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen
FMR1 was added to Hereditary ataxiapanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen