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GRIN Portal v1.0
Welcome to the interactive website for families, clinicians, and researchers dedicated to comprehending GRIN-related disorders
Individuals
Functionally tested variants
Phenotypes (HPOs)
Interested in other Genes?
Visit also our other Gene Portals!
What is new in version 1.0?
- 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 GRIN research
First description of
de novo
variants in individuals with intellectual disability
Hamdan et al.
Delineation of the phenotype
Ohba et al.
Delineation of the phenotype
Lemke et al.
First report of cases with brain malformations
Fry et al.
First Report on memantine treatment in a gain-of-function case
Xu et al.
GRIN1-related disorders
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.
Clinical information from the GRIN registry
History of GRIN2A research
First description of
de novo
variants in individuals with intellectual disability
Endele et al.
First report on treatment with memantine in a Gain-of-Function case
Pierson et al.
Delineation of the speech phenotype
Turner et al.
Comprehensive genotype-phenotype correlation
Strehlow et al.
First report on L-Serine treatment in cases with null variants
Krey et al.
First report of recessive inheritance in cases with null variants
Strehlow et al.
GRIN2A-related disorders
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.
Clinical information from the GRIN registry
GRIN2A Phenotypes
Developmental Delay / Intellectual Disability
Abbreviations: DD/ID, Developmental Delay / Intellectual Disability
Seizures
Age at seizure onset
Age at seizure offset
Movement disorder
Further phenotypes
History of GRIN2B research
First description of
de novo
variants in individuals with intellectual disability
Endele et al.
Delineation of the phenotype
Lemke et al.
Delineation of the phenotype, first report of cases with brain malformations, first report on treatment with memantine in GoF cases
Platzer et al.
First report on L-Serine treatment in a Loss-of-Function case
Soto et al.
First report on L-Serine treatment in cases with null variants
Krey et al.
GRIN2B-related disorders
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.
Clinical information from the GRIN registry
History of GRIN2D research
First description of
de novo
variants with epileptic encephalopathy, first report on treatment with memantine, ketamine, and magnesium in GoF cases
Li et al.
Delineation of the phenotype
XiangWei et al.
GRIN2D-related disorders
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.
More details can be found on Gene Reviews.Clinical information from the GRIN registry
What are GRIN-related disorders?
Expert curated subtitles available in English, German, Danish, Greek,
Russian, Spanish, Italian, Ukrainian, and Romanian.
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:
- Scientific terms (such as genes, proteins, and variants/mutations) that will help you understand GRIN-related disorders
- What causes GRIN-related disorders
- How GRIN-related disorders are diagnosed
- The symptoms of GRIN-related disorders
Thank you to all contributors!
International
Related organizations
Italy
Austria
Germany
Spain
Brasil
The Netherlands
Filtered Subset
Filtered Subset
Number of variants with phenotypic data per domain
Degree of the intellectual disability (ID)
Proportion of individuals with seizures
Filtered Subset
Functional data represent fold changes in receptor activity by gene variant compared to wild-type. Zero means no change from wild-type. Logarithmic scaling was used for the plot. Fold changes below 0.02 are displayed as 0.02. Fold changes >50 are displayed as 50.
All data from the literature and:
Disclaimer: The functional data on this website is provided for academic and research purposes only. It has not undergone clinical validation, and should not be used for medical advice, diagnosis, or treatment.
If you are from Europe, Asia, Africa or other
This chapter of the study is led by geneticist Dr. Johannes Lemke (University of Leipzig). Please fill out the online consent
form and continue with the online clinical questionnaire; you can ask your doctor to help fill it out.
Please keep your return code and return link to re-access your entry at a later time.
The Leipzig team will contact CFERV to conduct functional studies for novel variants entered in the registry.
In case we have questions on your entry, you may be contacted by an administrator.
In case you have questions, please contact
GRIN@medizin.uni-leipzig.de
.
Info
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.If you are from North or South America or Australia
1. Email
grinresearch@cuanschutz.edu
your de-identified genetic testing results to make sure you qualify (and any other questions too!).
2. After we review your genetic testing results, the research coordinator will send you a consent form; sign and return to them. This may take 1-2 weeks.
3. The coordinator will send you the clinical questionnaire. We are updating the questionnaire and want you to fill out the latest version, even if you've already done it before.
4. Fill out the questionnaire; you can ask your doctor to help fill it out.
5. Return the filled-out questionnaire to the coordinator; they will contact CFERV to conduct functional studies for novel variants. Functional analysis takes several months. Your clinician can contact us at
grinresearch@cuanschutz.edu
to review your results or to discuss medical management. We cannot discuss medical management with you directly.
6. In the near future, we will email you for yearly updates. If you haven't heard from us, then please contact us again. Thank you for participating!!!!
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