Adult onset movement disorderSTR: C9orf72_GGGGCC
Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green
Created: 5 Aug 2019, 3:17 p.m. | Last Modified: 5 Aug 2019, 3:17 p.m.
Panel Version: 0.93
STR rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group. Comment : STR suggested by Huw and Raquel.
Created: 23 Apr 2019, 1:32 p.m.
Source PanelApp panels : Parkinson Disease and Complex Parkinsonism v1.6
Sources: Expert list
Created: 11 Jan 2019, 1:38 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 105550
Source NHS GMS was added to STR: C9orf72_GGGGCC.
Source London North GLH was added to STR: C9orf72_GGGGCC. Rating Changed from Green List (high evidence) to Green List (high evidence)
Str: c9orf72_ggggcc has been classified as Green List (High Evidence).
STR: C9orf72_GGGGCC was added STR: C9orf72_GGGGCC was added to Adult onset movement disorder. Sources: Expert list STR tags were added to STR: C9orf72_GGGGCC. Mode of inheritance for STR: C9orf72_GGGGCC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: C9orf72_GGGGCC were set to Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 105550 Review for STR: C9orf72_GGGGCC was set to GREEN