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| Hereditary ataxia with onset in adulthood v1.188 | ELOVL5 | Louise Daugherty commented on gene: ELOVL5: Downgraded rating from Green to Amber. 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 Amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.187 | ELOVL5 |
Louise Daugherty Source Expert Review Amber was added to ELOVL5. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| Hereditary ataxia with onset in adulthood v1.16 | ELOVL5 | Louise Daugherty Classified gene: ELOVL5 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.16 | ELOVL5 | Louise Daugherty Gene: elovl5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.14 | ELOVL5 | Louise Daugherty commented on gene: ELOVL5: 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 | ELOVL5 | Louise Daugherty Source London North GMS was added to ELOVL5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.11 | ELOVL5 | James Polke reviewed gene: ELOVL5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.9 | ELOVL5 | Louise Daugherty Added phenotypes Spinocerebellar ataxia 38, 615957 for gene: ELOVL5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.8 | ELOVL5 | Louise Daugherty reviewed gene: ELOVL5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.7 | ELOVL5 | Tracy Lester reviewed gene: ELOVL5: 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: Spinocerebellar ataxia 38, 615957; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.2 | ELOVL5 | Louise Daugherty Source NHS GMS was added to ELOVL5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.1 | ELOVL5 | Louise Daugherty Source Wessex and West Midlands GLH was added to ELOVL5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v0.2 | ELOVL5 |
Eleanor Williams gene: ELOVL5 was added gene: ELOVL5 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: ELOVL5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ELOVL5 were set to Spinocerebellar ataxia 36 615957 Mode of pathogenicity for gene: ELOVL5 was set to Other - please provide details in the comments |
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