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Intellectual disability syndromic and non-syndromic

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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. More than 10 unrelated families reported.

Developmental delay is a feature.
Created: 6 Sep 2024, 8:37 a.m. | Last Modified: 6 Sep 2024, 8:37 a.m.
Panel Version: 0.6185

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Parkinsonism-dystonia, infantile, 1, MIM# 613135

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Parkinsonism-dystonia, infantile, 1, MIM# 613135
OMIM
126455
Clinvar variants
Variants in SLC6A3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

6 Sep 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC6A3 were changed from to Parkinsonism-dystonia, infantile, 1, MIM# 613135

6 Sep 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SLC6A3 were set to

6 Sep 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SLC6A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC6A3 was added gene: SLC6A3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC6A3 was set to Unknown