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| Ataxia and cerebellar anomalies - narrow panel v4.37 | FMR1 | Achchuthan Shanmugasundram Tag Q4_22_demote_red was removed from gene: FMR1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v4.37 | FMR1 | Eleanor Williams reviewed gene: FMR1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v4.35 | FMR1 |
Achchuthan Shanmugasundram 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) |
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| Ataxia and cerebellar anomalies - narrow panel v2.310 | FMR1 | Arina Puzriakova Classified gene: FMR1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.310 | FMR1 | Arina Puzriakova Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.310 | FMR1 | Arina Puzriakova Gene: fmr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.309 | FMR1 | Arina Puzriakova Tag Q4_22_demote_red tag was added to gene: FMR1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.295 | FMR1 | Dmitrijs Rots reviewed gene: FMR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.264 | FMR1 | Arina Puzriakova Tag nucleotide-repeat-expansion tag was added to gene: FMR1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.264 | 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); males with a tremor phenotype; FragileXtremor/ataxiasyndrome,300623 to Fragile X tremor/ataxia syndrome, OMIM:300623 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v0.5 | FMR1 |
Ellen McDonagh 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 |
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