Ataxia and cerebellar anomalies - narrow panel
Gene: FMR1
The rating of this gene has been updated to red following NHS Genomic Medicine Service approval.Created: 11 Oct 2023, 10:01 a.m. | Last Modified: 11 Oct 2023, 10:01 a.m.
Panel Version: 4.37
Comment on list classification: FMR1 should be demoted from Green to Red at the next GMS panel update as the disease mechanism for FXTAS (includes ataxia) is repeat expansions and SNVs are not relevant. Furthermore, the FMR1_CGG STR entity will not be added as FXTAS is a late-onset condition and this panel feeds into the childhood-onset ataxia super panel (R55). The STR is already Green on the R45 Hereditary ataxia - adult onset (v2.13) panel.Created: 14 Nov 2022, 11:02 a.m. | Last Modified: 14 Nov 2022, 11:02 a.m.
Panel Version: 2.310
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: 2.295
Tag Q4_22_demote_red was removed from gene: FMR1.
Source Expert Review Red was added to FMR1. Source NHS GMS was added to FMR1. Rating Changed from Green List (high evidence) to Red List (low evidence)
Gene: fmr1 has been classified as Green List (High Evidence).
Tag Q4_22_demote_red tag was added to gene: FMR1.
Tag nucleotide-repeat-expansion tag was added to gene: FMR1.
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); males with a tremor phenotype; FragileXtremor/ataxiasyndrome,300623 to Fragile X tremor/ataxia syndrome, OMIM:300623
Checked against super panel made up of the panel constituents. Ready to promote to version 1.
gene: FMR1 was added gene: FMR1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: 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 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; FragileXtremor/ataxiasyndrome,300623