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Epileptic encephalopathy

Gene: GRIN1

Green List (high evidence)

GRIN1 (glutamate ionotropic receptor NMDA type subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000176884
EnsemblGeneIds (GRCh37): ENSG00000176884
OMIM: 138249, Gene2Phenotype
GRIN1 is in 5 panels

6 reviews

Louise Daugherty (Genomics England Curator)

Comment on publications: Added publications to support the MOI. For NDHMSR, to date there are three unrelated consanguineous families with NDHMSR in the literature, Lemke et al. (2016) PMID: 27164704 and Rossi et al. (2017) PMID:28051072.
For NDHMSD to date there are 16 unrelated cases with NDHMSD in the literature, Lemke et al. (2016) PMID: 27164704 (a re-evaluation of some previous cases and new cases with NDHMSD) and Chen et al. (2017) PMID: 28228639
4 Feb 2018, 4:41 p.m.
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant (NDHMSD) is a severe neurodevelopmental disorder characterized by profound developmental delay, severe intellectual disability with absent speech, muscular hypotonia, and a hyperkinetic movement disorder. Additional features may include cortical blindness, generalized cerebral atrophy, and seizures (summary by Lemke et al., 2016). To date, there are 16 unrelated cases with NDHMSD in the literature, Lemke et al. (2016) PMID: 27164704 (a re-evaluation of some previous cases and new cases with NDHMSD) and Chen et al. (2017) PMID: 28228639.
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive (NDHMSR) is an autosomal recessive neurodevelopmental disorder characterized by severely delayed psychomotor development, severe intellectual disability, and involuntary movements, including stereotypic movements, spasticity, and dystonia. Affected individuals are are usually unable to walk independently and have poor or absent speech. Some patients have intractable seizures (summary by Lemke et al., 2016). The transmission pattern of NDHMSR in the families reported by Lemke et al. (2016) was consistent with autosomal recessive inheritance. PMID: 27164704. To date there are three unrelated consanguineous families with NDHMSR in the literature, Lemke et al. (2016) PMID: 27164704 and Rossi et al. (2017) PMID:28051072.
4 Feb 2018, 4:37 p.m.
Comment on phenotypes: added new phenotypes from OMIM update
4 Feb 2018, 4:33 p.m.
Comment on publications: added new publications
4 Feb 2018, 4:21 p.m.
Comment on mode of inheritance: PMID: 27164704 (2017) evidence for both monoallelic and biallelic inheritance for Neurodevelopmental disorder with or without hyperkinetic movements and seizures.
4 Feb 2018, 4:19 p.m.

Amy McTague (UCL Institute of Child Health)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

  • Ohba et al (2015) Epilepsia doi: 10.1111/epi.12987

Variants in this GENE are reported as part of current diagnostic practice

Natalie Trump (NHS - Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

  • Ohba et al (2015) Epilepsia doi: 10.1111/epi.12987

Variants in this GENE are reported as part of current diagnostic practice

Manju Kurian (UCL-Institute of Child Health)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

  • Ohba et al (2015) Epilepsia doi: 10.1111/epi.12987

Variants in this GENE are reported as part of current diagnostic practice

Richard Scott (North Thames GMC/UCL)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

  • Ohba et al (2015) Epilepsia doi: 10.1111/epi.12987

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

Comment on phenotypes: Sources: OMIM, PMID: 25864721, G2P.
5 Jan 2016, 12:13 p.m.
Comment when marking as ready: 4 reviewers agree this gene should be rated green for this gene panel and provide a study reporting GRIN1 mutations in 4 out of 88 patients with unclassified early onset epileptic encephalopathies. It is a "possible DD gene" for epileptic encephalopathy on G2P.
5 Jan 2016, 12:12 p.m.
Comment on mode of inheritance: Checked the imprinted gene list.
5 Jan 2016, 12:07 p.m.
Gene added in expert review of the panel by Richard Scott (Genomics England), Manju Kurian (UCL-Institute of Child Health), Natalie Trump (NHS - Great Ormond Street Hospital), Amy McTague (UCL Institute of Child Health).
12 Nov 2015, 4:14 p.m.

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, 617820
  • NDHMSR
  • Mental retardation, autosomal dominant 8
  • Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, 614254
  • NDHMSD
  • early onset epileptic encephalopathies
  • involuntary movements
  • severe developmental delay
  • intellectual disability
  • EPILEPTIC ENCEPHALOPATHY
OMIM
138249
Clinvar variants
Variants in GRIN1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

4 Feb 2018, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for GRIN1 were set to 25864721; 23934111; 21376300; 28228639; 27164704; 28051072

4 Feb 2018, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for GRIN1 were set to 25864721; 23934111; 21376300; 28228639; 27164704,28051072

4 Feb 2018, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for GRIN1 were set to Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, 617820; NDHMSR; Mental retardation, autosomal dominant 8; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, 614254; NDHMSD; early onset epileptic encephalopathies; involuntary movements; severe developmental delay; intellectual disability; EPILEPTIC ENCEPHALOPATHY

4 Feb 2018, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for GRIN1 were set to 25864721; 23934111; 21376300; 28228639; 27164704

4 Feb 2018, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for GRIN1 were set to PMID: 25864721; 23934111; 21376300; 28228639; 27164704

4 Feb 2018, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for GRIN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

5 Jan 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for GRIN1 were set to PMID: 25864721; 23934111; 21376300

5 Jan 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for GRIN1 were set to Mental retardation, autosomal dominant 8; early onset epileptic encephalopathies; involuntary movements; severe developmental delay; intellectual disability; EPILEPTIC ENCEPHALOPATHY

5 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

5 Jan 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for GRIN1 were set to Mental retardation, autosomal dominant 8; early onset epileptic encephalopathies; involuntary movements; severe developmental delay; intellectual disability

5 Jan 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for GRIN1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

5 Jan 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for GRIN1 were set to PMID: 25864721

5 Jan 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for GRIN1 were set to Mental retardation, autosomal dominant 8

13 Nov 2015, Gel status: 4

Upload gene information

Antonio Rueda (GEL)

GRIN1 was added to Epileptic encephalopathypanel. Sources: Expert Review Green

13 Nov 2015, Gel status: 0

Upload gene information

Ellen McDonagh (Genomics England Curator)

GRIN1 was added to Epileptic encephalopathypanel. Sources: Expert Review,Expert Review Green

13 Nov 2015, Gel status: 1

clearsources

Ellen McDonagh (Genomics England Curator)

GRIN1All sources for gene: GRIN1were removed

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 1

Upload gene information

Ellen McDonagh (Genomics England Curator)

GRIN1 was added to Epileptic encephalopathypanel. Sources: Expert Review Green

13 Nov 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

GRIN1 was added to Epileptic encephalopathypanel. Source: Expert Review Red

13 Nov 2015, Gel status: 0

gel status update

GEL ()

The Gel status was updated for this whole panel

12 Nov 2015, Gel status: 0

Approved Gene

Ellen McDonagh (Genomics England Curator)

This proposed gene was validated and added to this panel

12 Nov 2015, Gel status: 0

Added New Source

Richard Scott (North Thames GMC/UCL)

GRIN1 was added to Epileptic encephalopathypanel. Sources: Expert Review

12 Nov 2015, Gel status: 0

Created

Richard Scott (North Thames GMC/UCL)

GRIN1 was created by Reviewer_03