Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency

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.

Clinical Features

Top most frequent phenotypes and symptoms related to Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Cognitive impairment
  • Flexion contracture
  • Hyperreflexia
  • Dysarthria

And another 24 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative 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.

Researches and researchers

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Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago (United States).

BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1 , (...)

View the complete list with 457 more genes
Specificity
1 %
Genes
100 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center (Germany).

BCS1L, RTN2, RYR1, SACS, SCN1A, SCN1B, SCN2A, SCN8A, SCO1, SCO2, AIMP1, SDHA, SDHB, SDHC, SDHD, SGCE, SLC16A2, SLC17A5, SLC19A2, SLC1A3 , (...)

View the complete list with 572 more genes
Specificity
1 %
Genes
100 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company (Germany).

BCS1L, ROR2, RPL10, BDNF, RPS6KA3, RTN2, RYR1, SACS, BIN1, SBF1, SCN10A, SCN1A, SCN1B, SCN2A, SCN3A, SCN4A, SCN5A, SCN8A, SCN9A, SCO1 , (...)

View the complete list with 1177 more genes
Specificity
1 %
Genes
100 %
Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel.

By CeGaT GmbH (Germany).

RTN2, SACS, AIMP1, SLC16A2, SLC1A4, SLC25A15, SOD1, SOX10, SPG11, ATL1, SPAST, SPG7, SPR, STUB1, TARDBP, TFG, TH, UBQLN2, VAMP1, VAPB , (...)

View the complete list with 122 more genes
Specificity
1 %
Genes
100 %
Ataxia and differential diagnoses Panel.

By CeGaT GmbH (Germany).

RPIA, SACS, ATXN1, ATXN10, ATXN2, ATXN7, SCN2A, SLC17A5, SLC1A3, SLC6A1, SLC9A1, SNAP25, BTD, SPG7, SPR, SPTBN2, STUB1, TBP, TWNK, ACO2 , (...)

View the complete list with 184 more genes
Specificity
1 %
Genes
100 %
Ataxia, autosomal recessive and X-linked Panel.

By CeGaT GmbH (Germany).

SACS, SLC9A1, SPG7, SPTBN2, STUB1, TTPA, WWOX, ATP8A2, CA8, SNX14, APTX, COQ8A, PRICKLE1, SYNE1, PMPCA, TDP1, TPP1, RNF216, CP, SYT14 , (...)

View the complete list with 26 more genes
Specificity
3 %
Genes
100 %
GRID2.

By Fulgent Genetics Fulgent Genetics (United States).

GRID2
Specificity
100 %
Genes
100 %
Ataxia Panel.

By Blueprint Genetics (Finland).

SACS, SLC1A3, SLC20A2, SLC2A1, SLC9A6, SPG7, SPTBN2, STUB1, TWNK, ACO2, CEP41, TTPA, VAMP1, VLDLR, WFS1, WWOX, ARL6, ATP8A2, FBXL4, CA8 , (...)

View the complete list with 137 more genes
Specificity
1 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Search Engine

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