Hereditary ataxia with onset in adulthood
Gene: SLC6A5
Comment on list classification: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene RedCreated: 19 Sep 2019, 1:13 p.m. | Last Modified: 19 Sep 2019, 1:13 p.m.
Panel Version: 1.199
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.Created: 15 Apr 2019, 10:21 a.m.
Can see no evidence of ataxia or cerebellar abnormalities in the OMIM reported phenotype. Not appropriate for this panelCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hyperekplexia 3, 614618
Gene: slc6a5 has been classified as Red List (Low Evidence).
Added phenotypes Hyperekplexia 3, 614618 for gene: SLC6A5
Source NHS GMS was added to SLC6A5.
Source Wessex and West Midlands GLH was added to SLC6A5.
Checked panel against panel constituents. Ready to promote to version 1.
Phenotypes for gene: SLC6A5 were changed from 614618 HYPEREKPLEXIA 3 to Hyperekplexia 3, 614618
gene: SLC6A5 was added gene: SLC6A5 was added to Hereditary ataxia - adult onset. Sources: Brain channelopathy v1.46,Expert Review Green Mode of inheritance for gene: SLC6A5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SLC6A5 were set to 16751771 Phenotypes for gene: SLC6A5 were set to 614618 HYPEREKPLEXIA 3