Hyperekplexia 2; Hkpx2

Clinical Features

Top most frequent phenotypes and symptoms related to Hyperekplexia 2; Hkpx2

  • Seizures
  • Spasticity
  • Motor delay
  • Hyperreflexia
  • Myopia
  • Hypertonia
  • Hernia
  • Myoclonus
  • Hyperactivity
  • Gastroesophageal reflux

And another 6 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Hyperekplexia 2; Hkpx2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
GLRB. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

GLRB
Specificity
100 %
Genes
100 %
Hyperekplexia 2 (sequence analysis of GLRB gene).

By CGC Genetics (Portugal).

GLRB
Specificity
100 %
Genes
100 %
Hyperekplexia (NGS panel for 7 genes).

By CGC Genetics (Portugal).

SLC6A5, ARHGEF9, GPHN, FKTN, GLRA1, GLRB, ASNS
Specificity
15 %
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 %
Hyperekplexia.

By MGZ Medical Genetics Center (Germany).

SLC6A5, ARHGEF9, GPHN, GLRA1, GLRB
Specificity
20 %
Genes
100 %
Newborn: Neonatal Apneas.

By MGZ Medical Genetics Center (Germany).

SCN4A, SLC6A5, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, COLQ, LAS1L, GLRA1, GLRB, PHOX2B, RAPSN
Specificity
8 %
Genes
100 %
Muscle Weakness (Myopathy, Muscular Dystrophy).

By MGZ Medical Genetics Center (Germany).

RYR1, BIN1, SCN4A, SCO2, SDHA, SGCA, SGCB, SGCD, SGCG, SLC22A5, SLC25A3, SLC25A4, SLC6A5, SNAP25, STIM1, TAZ, TWNK, TCAP, TIA1, TK2 , (...)

View the complete list with 159 more genes
Specificity
1 %
Genes
100 %
Metabolic disease with epilepsy panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht (Netherlands).

SLC2A1, GPHN, DNAJC5, TPP1, CLN3, CLN5, CLN6, CLN8, CPT2, CTSD, MFSD8, ADSL, PNPO, FOLR1, GAMT, GCSH, GLDC, GLRA1, GLRB, AMT , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %

You can get up to 24 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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