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Hereditary ataxia v1.312 FMR1 Arina Puzriakova Classified gene: FMR1 as Red List (low evidence)
Hereditary ataxia v1.312 FMR1 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.
Hereditary ataxia v1.312 FMR1 Arina Puzriakova Gene: fmr1 has been classified as Red List (Low Evidence).
Hereditary ataxia v1.302 FMR1 Dmitrijs Rots reviewed gene: FMR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary ataxia v1.298 FMR1_CGG Sarah Leigh commented on STR: FMR1_CGG
Hereditary ataxia v1.283 FMR1_CGG Arina Puzriakova Source NHS GMS was added to STR: FMR1_CGG.
Hereditary ataxia v1.270 FMR1_CGG Arina Puzriakova Phenotypes for STR: FMR1_CGG were changed from Fragile X syndrome 300624 to Fragile X tremor/ataxia syndrome, OMIM:300623
Hereditary ataxia v1.269 FMR1 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
Hereditary ataxia v1.211 FMR1_CGG Arina Puzriakova Tag curated_removed tag was added to STR: FMR1_CGG.
Hereditary ataxia v1.144 FMR1_CGG Louise Daugherty Classified STR: FMR1_CGG as No list
Hereditary ataxia v1.144 FMR1_CGG Louise Daugherty Str: fmr1_cgg has been removed from the panel.
Hereditary ataxia FMR1 Ellen McDonagh commented on STR: FMR1_CGG
Hereditary ataxia FMR1 Ellen McDonagh Added STR to panel