Hereditary neuropathy
Gene: SLC1A3EnsemblGeneIds (GRCh38): ENSG00000079215
EnsemblGeneIds (GRCh37): ENSG00000079215
OMIM: 600111, Gene2Phenotype
SLC1A3 is in 13 panels
5 reviews
Louise Daugherty (Genomics England Curator)
Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.Created: 29 Apr 2019, 12:53 p.m.
Natalie Forrester (SWGLH - Bristol Genetics)
Unable to find any evidence of clear neuropathy associationCreated: 29 Apr 2019, 12:30 p.m.
Phenotypes
Hereditary Neuropathies
Rita Horvath (Institute of Genetic Medicine, Newcastle University)
Alexander Rossor (UCL Institute of Neurology)
Not a CMT geneCreated: 9 Dec 2015, 8:50 a.m.
Mary Reilly (Institute of Neurology)
Not a CMT geneCreated: 8 Dec 2015, 3:06 p.m.
Details
- Sources
-
- NHS GMS
- South West GLH
- Emory Genetics Laboratory
- Phenotypes
-
- Hereditary Neuropathies
- OMIM
- 600111
- Clinvar variants
- Variants in SLC1A3
- Penetrance
- Complete
- Panels with this gene
-
- Monogenic hearing loss
- Hereditary ataxia with onset in adulthood
- Childhood onset dystonia, chorea or related movement disorder
- Adult onset dystonia, chorea or related movement disorder
- Adult onset neurodegenerative disorder
- Hereditary neuropathy or pain disorder
- Hereditary ataxia
- Brain channelopathy
- Skeletal Muscle Channelopathies
- Ataxia and cerebellar anomalies - narrow panel
- Skeletal muscle channelopathy
- Hereditary neuropathy
- Paroxysmal central nervous system disorders
History Filter Activity
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Hereditary Neuropathies for gene: SLC1A3
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to SLC1A3.
Added New Source
Louise Daugherty (Genomics England Curator)Source South West GLH was added to SLC1A3.
Added New Source
Ellen McDonagh (Genomics England Curator)SLC1A3 was added to Charcot-Marie-Tooth diseasepanel. Sources: Emory Genetics Laboratory