GRIN1-related disorder is characterized by mild-to-profound developmental delay / intellectual disability in all affected individuals. Other common manifestations are epilepsy, muscular hypotonia, movement disorders, spasticity, feeding difficulties, and behavior problems. A subset of individuals shows a malformation of cortical development consisting of extensive and diffuse bilateral polymicrogyria. More details can be found on GeneReviews.
Abbreviations: DD/ID, Developmental Delay / Intellectual Disability
GRIN2A-related disorder is characterized by either mild-to-profound developmental delay / intellectual disability in two thirds of affected individuals. Other common manifestations are speech disorders, epilepsy, muscular hypotonia, movement disorders, spasticity, feeding difficulties, and behavior problems. More details can be found on GeneReviews.
Abbreviations: DD/ID, Developmental Delay / Intellectual Disability
GRIN2B-related disorder is characterized by mild-to-profound developmental delay / intellectual disability in all affected individuals. Other common manifestations are epilepsy, muscular hypotonia, movement disorders, spasticity, feeding difficulties, and behavior problems. A subset of individuals shows a malformation of cortical development consisting of extensive and diffuse bilateral polymicrogyria. More details can be found on GeneReviews.
Abbreviations: DD/ID, Developmental Delay / Intellectual Disability
GRIN2D-related disorder is characterized by moderate-to-profound developmental delay / intellectual disability in all affected individuals. Other common manifestations are epilepsy, muscular hypotonia, movement disorders, spasticity, feeding difficulties, and behavior problems.
Only few individuals have been reported in the GRIN Registry yet.Abbreviations: DD/ID, Developmental Delay / Intellectual Disability
If your family has received a diagnosis of GRIN-related disorders, you’ve probably never heard of it before. That’s okay. Your doctors probably haven’t either! But the GRIN Portal community is here to help.
This 6-minute “What are GRIN-related disorders?” video helps families learn about these disorders in plain language. You’ll learn:
Variant Analysis lets you analyze single or multiple single-nucleotide variants (SNVs) in GRIN genes.
You may also download a report on the clinical significance of the variant (no medical advice).
Abbreviations: DD/ID, Developmental Delay/Intellectual Disability; ASD, Autism Spectrum Disorder; MD, Movement Disorder; MCD, Malformation of Cortical Development; CVI, Cerebral Visual Impairment
Abbreviations: DD/ID, Developmental Delay/Intellectual Disability; ASD, Autism Spectrum Disorder; MD, Movement Disorder; MCD, Malformation of Cortical Development; CVI, Cerebral Visual Impairment
Abbreviations: DD/ID, Developmental Delay / Intellectual Disability
Selected variants are displayed in 2D (lolliplot) and 3D (protein structure).
The following transcripts were used: GRIN1: NM_007327.4, GRIN2A: NM_001134407.3, GRIN2B: NM_000834.4, GRIN2D: NM_000836.2
0 - no ID; 1 - mild ID; 2 - moderate ID; 3 - severe/profound ID
Filtering is not yet available. A more comprehensive list will be updated soon.
Both chapters of the registry will be merged, and patients only need to be enrolled at Colorado or Leipzig. If you have already enrolled but have additional novel information, please get in contact and update your entry.
This is version 0.2 of the GRIN Portal.
The GRIN Portal is a coalition of investigators seeking to aggregate and harmonize data generated to study GRIN-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 GRIN-related disorders
- Supporting research on GRIN-related disorders
- Facilitating recruitment of individuals to the global GRIN registry
- Providing support in variant interpretation and classification
- Visualizing data from the global GRIN registry
- Linking researchers, clinicians and families
The current version of the GRIN Portal has been developed by an international team of researchers and clinicians:
Johannes Lemke (Leipzig, Germany): General concept, clinical & genetic data
Tim Benke (Denver, US): Clinical & genetic data
Steve Traynelis (Atlanta, US): Molecular data
Dennis Lal (Cleveland, US): General concept, web development, bioinformatics, video production
Ilona Krey
Jenifer Sargent
Chiara Klöckner
Vincent Strehlow
Konrad Platzer
Scott Myers
Hongjie Yuan
Amy Ramsey
Chiara Klöckner
Marie Mcnee
Tobias Brünger
Eduardo Perez-Palma
Chiara Klöckner
Tobias Brünger
Eduardo Perez-Palma
Marie Mcnee
Patrick May
Arthur Stefanski
Chiara Klöckner
Tobias Brünger
Marie Mcnee
- v 0.2 (25/11/2021) Fixed minor bugs, updated clinical dataset, added variant report download and assessment of multiple variants, added pathogenic variant enriched regions and intolerant microdomains, added multiple family oganizations
- v 0.1 (02/06/2021) Public release
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.
All data here are publicly 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 GRIN 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 GRIN Portal improvements: Contact us that we can improve.