SLC6A1, its function and associated disorders



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SLC6A1-related disorders

History of SLC6A1 research

  • 2015
  • Carvill et al.

    Discovery of SLC6A1 as cause for epilepsy with myoclonic-atonic seizures

  • 2018
  • Johannesen et al.

    Delineation of the phenotypic spectrum

  • 2020
  • Goodspeed et al.

    Current knowledge of SLC6A1-related neurodevelopmental disorders

  • 2021
  • Mermer et al.

    Common molecular mechanisms of SLC6A1

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

Summary of clincal information in our registry


N = 134 patients


Epilepsy

Autism


N = 61 patients


PTV: Protein truncating variants


N = 94 patients


EMAS = Epilepsy with myoclonic-atonic seizures; GGE = Genetic generalized epilepsy; 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

EMAS = Epilepsy with myoclonic-atonic seizures; GGE = Genetic generalized epilepsy; 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


N = 81 patients


ID = Intellectual disability; DD = Developmental delay

For Families



What are SLC6A1-related disorders?





What are SLC6A1-related disorders

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

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Variant Information

Clinical significance according to ClinVar

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Individuals with the same variant in the SLC6A1 Portal


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Selected variants are displayed in 2D (lolliplot) and 3D (protein structure).

Reference population missense variants (gnomAD)
Pathogenic enriched regions (PER)

The following transcript was used: SLC6A1 : ENST00000287766
H: Helix


UniProt: P30531
Predicted structure Alpha fold

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


About

Portal version

This is the alpha version of the SLC6A1 Portal

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

Teams and People

The current version of the SLC6A1 Portal has been developed by an international team of researchers and clinicians:

Team Leaders

Dennis Lal (Cleveland, US): General concept, web development, bioinformatics, video production

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

Molecular Data

Felicia Mermer

Web Development

Arthur Stefanski

Tobias Brünger

Eduardo Perez-Palma

Marie Macnee

Chiara Klöckner

Bioinformatics

Tobias Brünger

Eduardo Perez-Palma

Marie Mcnee

Patrick May

Chiara Klöckner

Johannes Lemke

Video

Arthur Stefanski

Amber Freed

Impressum

We object to any commercial use and disclosure of data.

Copyright and use: The authors grants you the right of use to make a private copy for personal purposes. However, you are not entitled to change and/or pass on the materials or publish them yourself. Upon request, you will receive free information about the personal data stored about you. To do so, please contact the administrator.

No liability: The contents of this web project have been carefully checked and created to the best of our knowledge. But for the information presented here is no claim to completeness, timeliness, quality and accuracy. No responsibility can be accepted for any damage caused by reliance on or use of the contents of this website.

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.