Neurodegenerative disorders - adult onsetSTR: NOP56_GGCCTG
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 NOT reported as part of the current diagnostic practice. Comment: Patients with longer disease duration show motor neuron involvement.
Created: 23 Jul 2019, 5:01 p.m. | Last Modified: 23 Jul 2019, 5:01 p.m.
Panel Version: 1.75
Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group.
Created: 24 Apr 2019, 2:36 p.m.
Source PanelApp panels : Hereditary ataxia v1.148, Amyotrophic lateral sclerosis/motor neuron disease v1.26, Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.45.
Sources: Expert list
Created: 20 Dec 2018, 3:45 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Spinocerebellar ataxia 36 614153
Source Yorkshire and North East GLH was added to STR: NOP56_GGCCTG.
Source NHS GMS was added to STR: NOP56_GGCCTG.
Source London North GLH was added to STR: NOP56_GGCCTG.
Louise Daugherty: Source PanelApp panels : Hered
Str: nop56_ggcctg has been classified as Green List (High Evidence).
STR: NOP56_GGCCTG was added STR: NOP56_GGCCTG was added to Neurodegenerative disorders - adult onset. Sources: Expert list STR tags were added to STR: NOP56_GGCCTG. Mode of inheritance for STR: NOP56_GGCCTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: NOP56_GGCCTG were set to Spinocerebellar ataxia 36 614153 Review for STR: NOP56_GGCCTG was set to GREEN