1. Panels
  2. Autism
  3. SLC6A1
STRs in panel
Prev Next
Regions in panel
Prev Next

Autism

Gene: SLC6A1

Green List (high evidence)
SLC6A1 (solute carrier family 6 member 1)
EnsemblGeneIds (GRCh38): ENSG00000157103
EnsemblGeneIds (GRCh37): ENSG00000157103
OMIM: 137165, Gene2Phenotype
SLC6A1 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 20 individuals reported, ID and autism is part of the phenotype.
Created: 13 Jun 2020, 7:49 a.m. | Last Modified: 13 Jun 2020, 7:49 a.m.
Panel Version: 0.97

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Myoclonic-atonic epilepsy, MIM#616421

Publications

Created: 13 Jun 2020, 7:49 a.m.
Last Modified: 13 Jun 2020, 7:49 a.m.
Panel version: 0.97

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Myoclonic-atonic epilepsy, MIM#616421
OMIM
137165
Clinvar variants
Variants in SLC6A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc6a1 has been classified as Green List (High Evidence).

13 Jun 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC6A1 were changed from to Myoclonic-atonic epilepsy, MIM#616421

13 Jun 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SLC6A1 were set to

13 Jun 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SLC6A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC6A1 was added gene: SLC6A1 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SLC6A1 was set to Unknown