Hereditary neuropathy
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: 1.441
New Green STR submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group. This STR has been rated Amber until further discussion with the Neurology Test Group on 21st June 2019- although appropriate to have on this panel, they can be more late-onset, this panel is used for children so needs further discussion with the GLHs and Genomics England Clinical team before upgrading to Green
Sources: Expert listCreated: 11 Jun 2019, 5:25 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 36, 614153Late adult onset gait ataxia, tongue atrophy and fasciculation, distal motor neuropathy
Source NHS GMS was added to STR: NOP56_GGCCTG.
Phenotypes for STR: NOP56_GGCCTG were changed from Spinocerebellar ataxia 36, 614153Late adult onset gait ataxia, tongue atrophy and fasciculation, distal motor neuropathy to Spinocerebellar ataxia 36, OMIM:614153
Source Expert list was removed from STR: NOP56_GGCCTG. Source Expert Review was added to STR: NOP56_GGCCTG.
Str: nop56_ggcctg has been classified as Amber List (Moderate Evidence).
STR: NOP56_GGCCTG was added STR: NOP56_GGCCTG was added to Hereditary neuropathy. 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, 614153Late adult onset gait ataxia, tongue atrophy and fasciculation, distal motor neuropathy Review for STR: NOP56_GGCCTG was set to GREEN