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Hereditary spastic paraplegia, adult onset 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
Hereditary spastic paraplegia, adult onset 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.
Hereditary spastic paraplegia, adult onset v0.146 ADAR Louise Daugherty Deleted their comment
Hereditary spastic paraplegia, adult onset v0.57 ADAR Louise Daugherty Publications for gene: ADAR were set to
Hereditary spastic paraplegia, adult onset v0.54 ADAR Louise Daugherty Source Yorkshire and North East GLH was added to ADAR.
Hereditary spastic paraplegia, adult onset 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.
Hereditary spastic paraplegia, adult onset 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
Hereditary spastic paraplegia, adult onset v0.6 ADAR Louise Daugherty reviewed gene: ADAR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, adult onset 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
Hereditary spastic paraplegia, adult onset 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)
Hereditary spastic paraplegia, adult onset v0.3 ADAR Louise Daugherty Source NHS GMS was added to ADAR.
Hereditary spastic paraplegia, adult onset 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