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Intellectual disability

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

5 reviews

Louise Daugherty (Genomics England Curator)

removed watchlist due to new evidence added.
Created: 4 Feb 2018, 5:19 p.m.
Comment on phenotypes: 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.
Created: 4 Feb 2018, 5:05 p.m.
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
Created: 4 Feb 2018, 5:02 p.m.
Comment on mode of inheritance: 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
Created: 4 Feb 2018, 5:01 p.m.
Comment on list classification: changed from Amber to Green as there is now enough evidence in the literature to support the green rating.
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.
Created: 4 Feb 2018, 5 p.m.

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
EPILEPTIC ENCEPHALOPATHY

Publications

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf . Main mutation mechanism : All missense/in frame
Created: 27 Jul 2017, 6:26 p.m.

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

Publications

Mode of pathogenicity
Other

Ellen Thomas (Genomics England Curator)

Comment on list classification: Added to watchlist for review.
Created: 3 Apr 2017, 2:12 p.m.
Comment on list classification: Added to watchlist for review.
Created: 3 Apr 2017, 2:12 p.m.
Comment on list classification: Added to watchlist for review.
Created: 3 Apr 2017, 2:12 p.m.
Comment on list classification: Added to watchlist for review.
Created: 3 Apr 2017, 2:10 p.m.

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, 617820
  • NDHMSR
  • Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, 614254
  • NDHMSD
  • Mental retardation, autosomal dominant 8, 614254
  • EPILEPTIC ENCEPHALOPATHY
OMIM
138249
Clinvar variants
Variants in GRIN1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

28 Sep 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to GRIN1.

12 Mar 2018, Gel status: 3

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

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; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, 614254; NDHMSD; Mental retardation, autosomal dominant 8, 614254; EPILEPTIC ENCEPHALOPATHY

4 Feb 2018, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

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

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

4 Feb 2018, Gel status: 3

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

3 Apr 2017, Gel status: 2

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

3 Apr 2017, Gel status: 2

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

3 Apr 2017, Gel status: 2

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

3 Apr 2017, Gel status: 2

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 1

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

GRIN1 was added to Intellectual disabilitypanel. Source: Expert Review Red Model of inheritance for gene GRIN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

GRIN1 was added to Intellectual disabilitypanel. Sources: Radboud University Medical Center, Nijmegen