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Childhood onset hereditary spastic paraplegia v2.130 TBP_CAG Arina Puzriakova commented on STR: TBP_CAG
Childhood onset hereditary spastic paraplegia v2.126 TBP_CAG Arina Puzriakova Source NHS GMS was added to STR: TBP_CAG.
Childhood onset hereditary spastic paraplegia v2.95 TBP_CAG Arina Puzriakova Phenotypes for STR: TBP_CAG were changed from Spinocerebellar ataxia 17 607136 to Spinocerebellar ataxia 17, OMIM:607136
Childhood onset hereditary spastic paraplegia v1.177 TBP_CAG Louise Daugherty Classified STR: TBP_CAG as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v1.177 TBP_CAG Louise Daugherty Added comment: Comment on list classification: STR reviewed and discussed at the GMS Neurology Specialist Test Group Webex on 17th May Agreed to change the rating from Green to Amber.
Childhood onset hereditary spastic paraplegia v1.177 TBP_CAG Louise Daugherty Str: tbp_cag has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v0.29 TBP_CAG Louise Daugherty Classified STR: TBP_CAG as Green List (high evidence)
Childhood onset hereditary spastic paraplegia v0.29 TBP_CAG Louise Daugherty Str: tbp_cag has been classified as Green List (High Evidence).
Childhood onset hereditary spastic paraplegia v0.28 TBP_CAG Louise Daugherty STR: TBP_CAG was added
STR: TBP_CAG was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list
STR tags were added to STR: TBP_CAG.
Mode of inheritance for STR: TBP_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: TBP_CAG were set to Spinocerebellar ataxia 17 607136
Review for STR: TBP_CAG was set to GREEN
Added comment: Source PanelApp panels : Hereditary spastic paraplegia Version 1.141
Sources: Expert list