Hyperekplexia 3; Hkpx3

Clinical Features

Phenotypes and symptoms related to Hyperekplexia 3; Hkpx3

  • Hypertonia
  • Apnea
  • Muscle stiffness
  • Exaggerated startle response

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— The onset for some of the known clinical features related to this disease may vary, including neonatal 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 3; Hkpx3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
SLC6A5. Complete sequencing.

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

SLC6A5
Specificity
100 %
Genes
100 %
Hyperekplexia 3 (sequence analysis of SLC6A5 gene).

By CGC Genetics (Portugal).

SLC6A5
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 %
Glycine transporter 2 deficiency (SLC6A5).

By VU University Medical Center Metabolic Unit, PX 1X 009 (Netherlands).

SLC6A5
Specificity
100 %
Genes
100 %

You can get up to 21 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

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