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Discover how to customize variant classifications by exploring our
tutorial.
SLC6A1 Portal v1.1 (last updated 1st July 2024)
Welcome to the interactive website for families, clinicians, and researchers dedicated to comprehending SLC6A1-related disorders
Individuals
Functionally tested variants
Phenotypes
Latest news for the community
Interested in other Genes?
Visit also our other Gene Portals!
What is new in version 1.1?
- The general appearance was updated.
- Variant analysis shows an ACMG criteria-based variant classification.
- Variant analysis now allows ACMG criteria customization.
- A report can now be downloaded in the Variant analysis tab.
History of SLC6A1 research
Discovery of
SLC6A1
as cause for epilepsy with myoclonic-atonic seizures
Carvill et al.
Delineation of the phenotypic spectrum
Johannesen et al.
Johannesen et al.
Current knowledge of SLC6A1-related neurodevelopmental disorders
Goodspeed et al.
Goodspeed et al.
Common molecular mechanisms of
SLC6A1
Mermer et al.
Mermer et al.
Structural basis of GABA reuptake inhibition
Motiwala et al.
Motiwala et al.
SLC6A1
variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis
Stefanski et al.
Stefanski et al.
Haploinsufficiency underlies the neurodevelopmental consequences of
SLC6A1
variants
Silva et al.
Silva et al.
SLC6A1-related disorders
SLC6A1-related disorders are a group of genetic disorders characterized by disease-causing variants in the SLC6A1 gene. Clinical manifestations of SLC6A1 disorders include mild to severe intellectual disability, behavioral disturbances such as autism and ADHD and seizures (mean onset 3.7 years), often absences, myoclonic and atonic seizures. One or more of these features can be present in each individual affected by an SLC6A1-related disorder.
SLC6A1 mechanism
Clinical summary of our registry
What are SLC6A1-related disorders?
Subtitles available in English
If your family has received a diagnosis of
SLC6A1
-related disorders, you’ve probably never heard of it before. That’s okay. Your doctors probably haven’t either! But the Educational Science community is here to help.
This 4-minute “What are
SLC6A1
-related disorders?” explainer video helps families learn about these disorders in plain language. You’ll learn:
- Scientific terms (such as genes, proteins, and variants/mutations) that will help you understand SLC6A1-related disorders
- What causes SLC6A1-related disorders
- How SLC6A1-related disorders are diagnosed
- The symptoms of SLC6A1-related disorders
- Where to find support
How to analyse your variant
Filtered Subset
Variant location
The following transcript was used:
SLC6A1
: NM_003042.4
PTV: Protein truncating variant
Domain-wide comparison of patient vs. population variants
Abbreviations:
TM1/6: Transmembrane domains 1/6; TMD-other: Transmembrane domain other; EL2/3/4: Extracellular loops 2/3/4; OR: Odds ratio.
Filtered Subset
Phenotype comparison
EMAS = Epilepsy with myoclonic-atonic seizures; GGE = Genetic generalized epilepsy; UG = Unclassified general; NAFE = Non-acquired focal epilepsy; EOAE = Early onset absence epilepsy; DEE = Developmental epileptic encephalopathy; CAE = Childhood absence epilepsy; TLE = Temporal lobe epilepsy; LGS = Lennox-Gastaut syndrome; No SZ = No seizures; NA = Not available
DD: Developmental delay, ID: Intellectual disability
Filtered Subset
Explore functional data
Abbreviations:
TM1/6: Transmembrane domains 1/6; TMD-other: Transmembrane domain other; EL2/3/4: Extracellular loops 2/3/4; wt: wild-type.
GAT1 3D structure with functionally tested variants
Hotzones on GAT1 3D structure
GAT1 3D structure with key features
Abbreviations:
GAT1: GABA transporter type 1; TM1/6: Transmembrane domains 1/6; wt: wild-type.
Other measured parameter
Portal version 1.1
The SLC6A1 Portal is a coalition of investigators seeking to aggregate and harmonize data generated to study SLC6A1-related disorders, and to make summary data interactively accessible for the wider scientific community, while providing educational resources for everyone. The goals of this project are:
- Providing information on SLC6A1-related disorders
- Supporting research on SLC6A1-related disorders
- Facilitating recruitment of individuals to the global SLC6A1 registries
- Providing support in variant interpretation and classification
- Visualizing data from the global SLC6A1 registries
- Linking researchers, clinicians and families
The SLC6A1 Portal is an ongoing project of the scientific community in collaboration with SLC6A1Connect. Interested collaborators are invited to reach out to join the project.
Team Leaders
Dennis Lal (Cleveland, US): General concept, web development, bioinformatics, video production
Eduardo Perez-Palma (Santiago, Chile): Bioinformatics
Rikke Møller (Dianalund, DK): Clinical & genetic data
Kimberly Goodspeed (Dallas, US): Clinical & genetic data
Katty (Jing-Qiong) Kang (Vanderbilt, US): Molecular data
Clinical & Genetic Data
Katrine Johannesen
Alexander Deng
Ángel Aledo-Serrano
Artem Borovikov
Maina Kava
Arjan Bouman
MJ Hajianpour
Deb Pal
Line Futtrup
Thomas Balslev
Anna Abuli Vidal
Leslie Danvoye
Damien Lederer
Clinical & Genetic Data
Tugce Balci
Marc Engelen
Eveline Hagebeuk
Marwan Shinawi
Alexis Heidlebaugh
Kathryn Oetjens
Trevor Hoffman
Pasquale Striano
Sarah Drewes
Kalene van Engelen
Katherine Howell
Jean Khoury
Molecular Data
Arthur Wuster
Felicia Mermer
Marena Trinidad
Steven Froelich
Web Development
Arthur Stefanski
Tobias Brünger
Eduardo Perez-Palma
Marie Macnee
Chiara Klöckner
Bioinformatics
Tobias Brünger
Cornelius Gati
Eduardo Perez-Palma
Marie Mcnee
Patrick May
Chiara Klöckner
Ludovica Montanucci
Johannes Lemke
Video
Arthur Stefanski
Amber Freed
Terms of Use
All data presented here are publicly available for the benefit of the wider biomedical community. You can freely explore the data, and we encourage the use and publication of results generated from these data. However, we encourage you to contact us before embarking on analyses to check if your proposed analysis overlaps with work currently underway by our team. Further, we request that you actively acknowledge and give attribution to the SLC6A1 Portal project, and link back to the relevant page, wherever possible. All users of our data agree to not attempt to reidentify participants. Our data set has been subjected to extensive quality control, but may be imperfect so errors may remain. If you spot any results that seem impossible, or have suggestions for SLC6A1 Portal improvements:
Contact us that we can improve.Data Generation
Data has been curated in a community effort.
© 2024