Childhood onset dystonia, chorea or related movement disorder
STR: C9orf72_GGGGCCSTR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.Created: 15 Mar 2022, 12:39 p.m. | Last Modified: 15 Mar 2022, 12:39 p.m.
Panel Version: 1.217
Comment on list classification: Reviews for C9orf72 gene on this panel from Zornitza Stark (Australian Genomics), James Polke (North Thames GLH) & Helen Brittain (Genomics England Clinical Fellow)(https://panelapp.genomicsengland.co.uk/panels/847/gene/C9orf72/#!review), together recommend a Red rating, as the phenotype associated with this variant in this gene has an adult onset and is therefore not appropriate for a childhood gene panel.Created: 22 Jul 2021, 1:17 p.m. | Last Modified: 22 Jul 2021, 1:17 p.m.
Panel Version: 1.137
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 GreenCreated: 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 listCreated: 11 Jan 2019, 1:38 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 105550
Normal Number of Repeats for C9orf72_GGGGCC was changed from 30 to 24. Pathogenic Number of Repeats for C9orf72_GGGGCC was changed from 30 to 200.
Phenotypes for STR: C9orf72_GGGGCC were changed from Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 OMIM:105550; frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MONDO:0007105 to Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, OMIM:105550
Tag Q2_21_rating was removed from STR: C9orf72_GGGGCC. Tag STR tag was added to STR: C9orf72_GGGGCC.
Tag STR was removed from STR: C9orf72_GGGGCC.
Str: c9orf72_ggggcc has been classified as Red List (Low Evidence).
Phenotypes for STR: C9orf72_GGGGCC were changed from Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 105550 to Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 OMIM:105550; frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MONDO:0007105
Tag Q2_21_rating tag was added to STR: C9orf72_GGGGCC.
Str: c9orf72_ggggcc has been classified as Amber List (Moderate Evidence).
STR: C9orf72_GGGGCC was added STR: C9orf72_GGGGCC was added to Childhood onset dystonia or chorea or related movement disorder. Sources: NHS GMS,Expert Review Green,London North GLH,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