GRID2 gene related symptoms and diseases

All the information presented here about the GRID2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to GRID2 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Dysmetria Very Common - Between 80% and 100% cases
Rotary nystagmus Very Common - Between 80% and 100% cases
Cerebellar vermis atrophy Very Common - Between 80% and 100% cases
Gaze-evoked nystagmus Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with GRID2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Dysdiadochokinesis
  • Incoordination
  • Oculomotor apraxia
  • Horizontal nystagmus
  • Truncal ataxia
  • Limb ataxia
  • Apraxia
  • Optic disc pallor

And 21 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to GRID2 gene

Here you will find a list of rare diseases related to the GRID2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


AUTOSOMAL RECESSIVE CONGENITAL CEREBELLAR ATAXIA DUE TO GRID2 DEFICIENCY


Alternate names

AUTOSOMAL RECESSIVE CONGENITAL CEREBELLAR ATAXIA DUE TO GRID2 DEFICIENCY Is also known as autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency, scar18

Description

Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from GRID2 deficiency characterized by motor, speech and cognitive delay, hypotonia, truncal and appendicular ataxia, and eye movement abnormalities (tonic upgaze, nystagmus, oculomotor apraxia). Intention tremor may also be associated. Brain imaging reveals progressive cerebellar atrophy with cerebellar flocculus particularly affected.

Most common symptoms of AUTOSOMAL RECESSIVE CONGENITAL CEREBELLAR ATAXIA DUE TO GRID2 DEFICIENCY

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


More info about AUTOSOMAL RECESSIVE CONGENITAL CEREBELLAR ATAXIA DUE TO GRID2 DEFICIENCY

SOURCES: ORPHANET OMIM


Potential gene panels for GRID2 gene

Ataxia Exome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2

More info about this panel

Neurogenetic Disorders - panels Panel

Germany.

By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2

More info about this panel

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel

Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel Panel

Germany.

By CeGaT GmbH Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel that also includes the following genes: RTN2 SACS AIMP1 SLC16A2 SLC1A4 SLC25A15 SOD1 SOX10 SPG11 ATL1

More info about this panel

Ataxia and differential diagnoses Panel Panel

Germany.

By CeGaT GmbH Ataxia and differential diagnoses Panel that also includes the following genes: RPIA SACS ATXN1 ATXN10 ATXN2 ATXN7 SCN2A SLC17A5 SLC1A3 SLC6A1

More info about this panel

Ataxia, autosomal recessive and X-linked Panel Panel

Germany.

By CeGaT GmbH Ataxia, autosomal recessive and X-linked Panel that also includes the following genes: SACS SLC9A1 SPG7 SPTBN2 STUB1 TTPA WWOX ATP8A2 CA8 SNX14

More info about this panel

GRID2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the GRID2 gene.

More info about this panel

Ataxia Panel Panel

Finland.

By Blueprint Genetics Ataxia Panel that also includes the following genes: SACS SLC1A3 SLC20A2 SLC2A1 SLC9A6 SPG7 SPTBN2 STUB1 TWNK ACO2

More info about this panel

SPINOCEREBELLAR ATAXIA NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL SPINOCEREBELLAR ATAXIA NGS PANEL that also includes the following genes: SPTBN2 STUB1 TWNK TTPA WWOX CA8 CACNA1A CACNA1G ELOVL4 APTX

More info about this panel


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