Activity
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9 actions
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| Adult onset hereditary spastic paraplegia v0.146 | OPA3 | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.54 | OPA3 | Louise Daugherty Source Yorkshire and North East GLH was added to OPA3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.53 | OPA3 | Nick Beauchamp reviewed gene: OPA3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.53 | OPA3 | Louise Daugherty commented on gene: OPA3: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.6 | OPA3 | Louise Daugherty reviewed gene: OPA3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.5 | OPA3 | James Polke reviewed gene: OPA3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 3-methylglutaconic aciduria, type III, 258501, Costeff syndrome, Optic atrophy 3 with cataract, 165300, AD; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.4 | OPA3 |
Louise Daugherty Source Expert Review Green was added to OPA3. Mode of inheritance for gene OPA3 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes 3-methylglutaconic aciduria, type III, 258501; Costeff syndrome, Optic atrophy 3 with cataract, 165300, AD for gene: OPA3 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Adult onset hereditary spastic paraplegia v0.3 | OPA3 | Louise Daugherty Source NHS GMS was added to OPA3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.2 | OPA3 |
Louise Daugherty gene: OPA3 was added gene: OPA3 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: OPA3 was set to |
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