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| Adult onset hereditary spastic paraplegia v0.148 | POLR3A | Louise Daugherty commented on gene: POLR3A: Red gene with Green GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.147 | POLR3A |
Louise Daugherty Source Expert Review Green was added to POLR3A. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Adult onset hereditary spastic paraplegia v0.146 | POLR3A | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.117 | POLR3A | Louise Daugherty Publications for gene: POLR3A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.54 | POLR3A | Louise Daugherty Source Yorkshire and North East GLH was added to POLR3A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.53 | POLR3A | Nick Beauchamp reviewed gene: POLR3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25655951, 21855841, 28459997; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.53 | POLR3A | Louise Daugherty commented on gene: POLR3A: 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 | POLR3A | Louise Daugherty reviewed gene: POLR3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.5 | POLR3A | James Polke reviewed gene: POLR3A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal Recessive Ataxia, Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.4 | POLR3A |
Louise Daugherty Source Expert Review Red was added to POLR3A. Mode of inheritance for gene POLR3A was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694; Autosomal Recessive Ataxia for gene: POLR3A |
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| Adult onset hereditary spastic paraplegia v0.3 | POLR3A | Louise Daugherty Source NHS GMS was added to POLR3A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.2 | POLR3A |
Louise Daugherty gene: POLR3A was added gene: POLR3A was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: POLR3A was set to |
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