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Hereditary ataxia with onset in adulthood v2.147 FMR1_CGG Sarah Leigh commented on STR: FMR1_CGG
Hereditary ataxia with onset in adulthood v2.145 FMR1_CGG Arina Puzriakova Source NHS GMS was added to STR: FMR1_CGG.
Hereditary ataxia with onset in adulthood v2.114 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 with onset in adulthood v2.113 FMR1 Arina Puzriakova Phenotypes for gene: FMR1 were changed from FragileXtremor/ataxiasyndrome,300623; Fragile X tremor/ataxia syndrome; FMR1-related disorders include fragile X syndrome, fragile X-associated tremor/ataxia syndrome (FXTAS), and FMR1-related premature ovarian insufficiency (POI); males with a tremor phenotype to Fragile X tremor/ataxia syndrome, OMIM:300623
Hereditary ataxia with onset in adulthood v2.11 FMR1_CGG Arina Puzriakova Classified STR: FMR1_CGG as Green List (high evidence)
Hereditary ataxia with onset in adulthood v2.11 FMR1_CGG Arina Puzriakova Str: fmr1_cgg has been classified as Green List (High Evidence).
Hereditary ataxia with onset in adulthood v2.10 FMR1_CGG Arina Puzriakova STR: FMR1_CGG was added
STR: FMR1_CGG was added to Hereditary ataxia - adult onset. Sources: Expert list
STR tags were added to STR: FMR1_CGG.
Mode of inheritance for STR: FMR1_CGG was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for STR: FMR1_CGG were set to Fragile X syndrome, 300624
Review for STR: FMR1_CGG was set to GREEN
Added comment: New STR submitted and discussed with GLHs for the GMS Neurology Specialist Test Group, who agreed that there is sufficient evidence to rate this STR Green on this panel.
Sources: Expert list
Hereditary ataxia with onset in adulthood v1.188 FMR1 Louise Daugherty commented on gene: FMR1: Downgraded Green to Red. As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red
Hereditary ataxia with onset in adulthood v1.187 FMR1 Louise Daugherty Source Expert Review Red was added to FMR1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Hereditary ataxia with onset in adulthood v1.14 FMR1 Louise Daugherty commented on gene: FMR1: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group
Hereditary ataxia with onset in adulthood v1.13 FMR1 Louise Daugherty Source London North GMS was added to FMR1.
Hereditary ataxia with onset in adulthood v1.11 FMR1 James Polke reviewed gene: FMR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.9 FMR1 Louise Daugherty Added phenotypes Fragile X tremor/ataxia syndrome for gene: FMR1
Hereditary ataxia with onset in adulthood v1.8 FMR1 Louise Daugherty reviewed gene: FMR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.7 FMR1 Tracy Lester reviewed gene: FMR1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: ; Phenotypes: Fragile X tremor/ataxia syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.2 FMR1 Louise Daugherty Source NHS GMS was added to FMR1.
Hereditary ataxia with onset in adulthood v1.1 FMR1 Louise Daugherty Source Wessex and West Midlands GLH was added to FMR1.
Hereditary ataxia with onset in adulthood v0.5 FMR1 Eleanor Williams Tag nucleotide-repeat-expansion tag was added to gene: FMR1.
Hereditary ataxia with onset in adulthood v0.2 FMR1 Eleanor Williams gene: FMR1 was added
gene: FMR1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: FMR1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: FMR1 were set to FragileXtremor/ataxiasyndrome,300623; males with a tremor phenotype; FMR1-related disorders include fragile X syndrome, fragile X-associated tremor/ataxia syndrome (FXTAS), and FMR1-related premature ovarian insufficiency (POI)