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| Adult onset hereditary spastic paraplegia v1.103 | ADAR | Arina Puzriakova Phenotypes for gene: ADAR were changed from Aicardi-Goutieres syndrome 6, 615010 autosomal recessive; Dyschromatosis symmetrica hereditaria, autosomal dominant, 127400 to Aicardi-Goutieres syndrome 6, OMIM:615010 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.148 | ADAR | Louise Daugherty commented on gene: ADAR: Green gene with Amber 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 v0.146 | ADAR | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.57 | ADAR | Louise Daugherty Publications for gene: ADAR were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.54 | ADAR | Louise Daugherty Source Yorkshire and North East GLH was added to ADAR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.53 | ADAR | Louise Daugherty commented on gene: ADAR: 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 v0.52 | ADAR | Nick Beauchamp reviewed gene: ADAR: Rating: AMBER; Mode of pathogenicity: None; Publications: 25243380, 25604658; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.6 | ADAR | Louise Daugherty reviewed gene: ADAR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.5 | ADAR | James Polke reviewed gene: ADAR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Aicardi-Goutieres syndrome 6, 615010 autosomal recessive, Dyschromatosis symmetrica hereditaria, autosomal dominant, 127400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.4 | ADAR |
Louise Daugherty Source Expert Review Green was added to ADAR. Mode of inheritance for gene ADAR was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Aicardi-Goutieres syndrome 6, 615010 autosomal recessive; Dyschromatosis symmetrica hereditaria, autosomal dominant, 127400 for gene: ADAR Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Adult onset hereditary spastic paraplegia v0.3 | ADAR | Louise Daugherty Source NHS GMS was added to ADAR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.2 | ADAR |
Louise Daugherty gene: ADAR was added gene: ADAR was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: ADAR was set to |
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