Adult onset neurodegenerative disorder
STR: C9orf72_GGGGCCSTR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.Created: 15 Mar 2022, 12:42 p.m. | Last Modified: 15 Mar 2022, 12:42 p.m.
Panel Version: 2.267
Green rating for STR submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated that variants are reported as part of the current diagnostic practice. Comment: Onset in adulthood, rapidly progressiveCreated: 23 Jul 2019, 4:53 p.m. | Last Modified: 23 Jul 2019, 4:53 p.m.
Panel Version: 1.75
Green rating inferred from review comment on the gene by Anthony Dallosso (Bristol Genetics Laboratory) on behalf of South West GLH, needs to be confirmed during the Neurology test Group call July 2019.Created: 9 Jul 2019, 10:27 a.m. | Last Modified: 9 Jul 2019, 10:27 a.m.
Panel Version: 1.59
Green rating for STR submitted on behalf of James Polke, also indicated that variants are reported as part of the current diagnostic practice, on behalf of London North GLH for GMS Neurology specialist test group.Created: 24 Apr 2019, 2:35 p.m. | Last Modified: 9 Jul 2019, 10:27 a.m.
Panel Version: 1.59
Source PanelApp panels : Parkinson Disease and Complex Parkinsonism v1.64, Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.45, Amyotrophic lateral sclerosis/motor neuron disease v1.26
Sources: Expert listCreated: 20 Dec 2018, 4:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 105550
Variants in this STR are reported as part of current diagnostic practice
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 105550 to Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, OMIM:105550
Source Yorkshire and North East GLH was added to STR: C9orf72_GGGGCC.
Source NHS GMS was added to STR: C9orf72_GGGGCC.
Source South West GLH was added to STR: C9orf72_GGGGCC.
Source London North GLH was added to STR: C9orf72_GGGGCC.
Louise Daugherty: Source PanelApp panels : Parki
Str: c9orf72_ggggcc has been classified as Green List (High Evidence).
STR: C9orf72_GGGGCC was added STR: C9orf72_GGGGCC was added to Neurodegenerative disorders - adult onset. 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