1. Panels
  2. Prepair 1000+
  3. SLC6A3
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Prepair 1000+

Gene: SLC6A3

Green List (high evidence)
SLC6A3 (solute carrier family 6 member 3)
EnsemblGeneIds (GRCh38): ENSG00000142319
EnsemblGeneIds (GRCh37): ENSG00000142319
OMIM: 126455, Gene2Phenotype
SLC6A3 is in 8 panels

1 review

Andrew Coventry (Victorian Clinical Genetics Services)

Green List (high evidence)

Dopamine transporter, bi-allelic variants cause a complex motor neurologic disorder with onset in infancy. Affected individuals show hyperkinesia with orolingual and limb dyskinesia, dystonia, and chorea, or hypokinesia with parkinsonian features, such as bradykinesia, rigidity, and tremor. Other features may include axial hypotonia, pyramidal tract signs, and eye movement abnormalities. Developmental delay. Most patients die in teenage years. More than 10 unrelated families reported. Animal model present.
Created: 25 Sep 2024, 11:43 a.m. | Last Modified: 25 Sep 2024, 11:43 a.m.
Panel Version: 1.322

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Parkinsonism-dystonia, infantile, 1 MIM#613135

Publications

Created: 25 Sep 2024, 11:43 a.m.
Last Modified: 25 Sep 2024, 11:43 a.m.
Panel version: 1.322

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Parkinsonism-dystonia, infantile, 613135 (3)
OMIM
126455
Clinvar variants
Variants in SLC6A3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: slc6a3 has been classified as Green List (High Evidence).

26 Sep 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: SLC6A3 were set to

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC6A3 was added gene: SLC6A3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SLC6A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC6A3 were set to Parkinsonism-dystonia, infantile, 613135 (3)