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| Hereditary ataxia with onset in adulthood v1.188 | EPM2A | Louise Daugherty commented on gene: EPM2A: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.14 | EPM2A | Louise Daugherty commented on gene: EPM2A: 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 | EPM2A | Louise Daugherty Source London North GMS was added to EPM2A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.11 | EPM2A | James Polke reviewed gene: EPM2A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.9 | EPM2A | Louise Daugherty Added phenotypes Progressive myoclonic epilepsy 2A, Lafora, 254780 for gene: EPM2A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.8 | EPM2A | Louise Daugherty reviewed gene: EPM2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.7 | EPM2A | Tracy Lester reviewed gene: EPM2A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Progressive myoclonic epilepsy 2A, Lafora, 254780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.2 | EPM2A | Louise Daugherty Source NHS GMS was added to EPM2A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.1 | EPM2A | Louise Daugherty Source Wessex and West Midlands GLH was added to EPM2A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v0.2 | EPM2A |
Eleanor Williams gene: EPM2A was added gene: EPM2A was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: EPM2A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EPM2A were set to 27604308; 14722920; 10932264 Phenotypes for gene: EPM2A were set to Epilepsy, progressive myoclonic 2A (Lafora) 254780 |
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