Hereditary ataxia with onset in adulthood
Gene: SLC6A5

SLC6A5 (solute carrier family 6 member 5)
EnsemblGeneIds (GRCh38): ENSG00000165970
EnsemblGeneIds (GRCh37): ENSG00000165970
OMIM: 604159, Gene2Phenotype
SLC6A5 is in 10 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

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 Red
Created: 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.

Created: 15 Apr 2019, 10:21 a.m.

Panel version: 1.8

Tracy Lester (Genetics laboratory, Oxford UK)

Red List (low evidence)

Can see no evidence of ataxia or cerebellar abnormalities in the OMIM reported phenotype. Not appropriate for this panel
Created: 15 Apr 2019, 10:06 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Hyperekplexia 3, 614618

Created: 15 Apr 2019, 10:06 a.m.

Panel version: 1.7

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Red
NHS GMS
Wessex and West Midlands GLH
Brain channelopathy v1.46

Phenotypes

Hyperekplexia 3, 614618

OMIM

604159

Clinvar variants

Variants in SLC6A5

Penetrance

None

Publications

16751771

Panels with this gene