Hereditary ataxia
Gene: FMR1Comment on list classification: Demoted from Green to Red as the disease mechanism is repeat expansion and SNVs are not relevant to FXTAS.Created: 14 Nov 2022, 10:56 a.m. | Last Modified: 14 Nov 2022, 10:56 a.m.
Panel Version: 1.312
Only CGG expansion causes movement disorder. Should be excluded from the panel, as would result in SNV analysis.Created: 25 Apr 2022, 10:16 a.m. | Last Modified: 25 Apr 2022, 10:16 a.m.
Panel Version: 1.302
Comment 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
Gene: fmr1 has been classified as Red List (Low Evidence).
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
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