Early onset dementia (encompassing fronto-temporal dementia and prion disease)
STR: NOP56_GGCCTGSTR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.Created: 15 Mar 2022, 3:35 p.m. | Last Modified: 15 Mar 2022, 3:35 p.m.
Panel Version: 1.76
added to the panel following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Sources: Expert ReviewCreated: 5 Dec 2018, 1:44 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Str: nop56_ggcctg has been classified as Green List (High Evidence).
Source NHS GMS was added to STR: NOP56_GGCCTG. Rating Changed from Green List (high evidence) to Red List (low evidence)
Phenotypes for STR: NOP56_GGCCTG were changed from Spinocerebellar ataxia 36 614153 to Spinocerebellar ataxia 36, OMIM:614153
Phenotypes for STR: NOP56_GGCCTG were changed from to Spinocerebellar ataxia 36 614153
Repeated Sequence for NOP56_GGCCTG was changed from CAG to GGCCTG. Rating Changed from Green List (high evidence) to Green List (high evidence)
Tag STR tag was added to STR: NOP56_GGCCTG.
Str: nop56_ggcctg has been classified as Green List (High Evidence).
Str: nop56_ggcctg has been classified as Green List (High Evidence).
STR: NOP56_GGCCTG was added STR: NOP56_GGCCTG was added to Early onset dementia (encompassing fronto-temporal dementia and prion disease). Sources: Expert Review Mode of inheritance for STR: NOP56_GGCCTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Review for STR: NOP56_GGCCTG was set to GREEN