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| Hereditary neuropathy v1.441 | FMR1_CGG | Sarah Leigh commented on STR: FMR1_CGG | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.434 | FMR1_CGG | Arina Puzriakova Source NHS GMS was added to STR: FMR1_CGG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.424 | FMR1_CGG | Arina Puzriakova Phenotypes for STR: FMR1_CGG were changed from Fragile X syndrome 300624; Late onset tremor, ataxia, parkinsonism, sensory axonal neuropathy, middle cerebellar peduncle changes on MRI to Fragile X syndrome, OMIM:300624; Fragile X tremor/ataxia syndrome, OMIM:300623 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.423 | FMR1_CGG | Arina Puzriakova Tag currently-ngs-unreportable was removed from STR: FMR1_CGG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.319 | FMR1_CGG |
Louise Daugherty Source Expert list was removed from STR: FMR1_CGG. Source Expert Review was added to STR: FMR1_CGG. |
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| Hereditary neuropathy v1.312 | FMR1_CGG | Louise Daugherty Classified STR: FMR1_CGG as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.312 | FMR1_CGG | Louise Daugherty Str: fmr1_cgg has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.311 | FMR1_CGG |
Louise Daugherty STR: FMR1_CGG was added STR: FMR1_CGG was added to Hereditary neuropathy. Sources: Expert list currently-ngs-unreportable, 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) Publications for STR: FMR1_CGG were set to 26212380 Phenotypes for STR: FMR1_CGG were set to Fragile X syndrome 300624; Late onset tremor, ataxia, parkinsonism, sensory axonal neuropathy, middle cerebellar peduncle changes on MRI Review for STR: FMR1_CGG was set to GREEN Added comment: New Green STR submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group. This STR has been rated Amber until further discussion with the Neurology Test Group on 21st June 2019- although appropriate to have on this panel, they can be more late-onset, this panel is used for children so needs further discussion with the GLHs and Genomics England Clinical team before upgrading to Green Sources: Expert list |
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