Amyotrophic Lateral Sclerosis 16, Juvenile; Als16

Clinical Features

Phenotypes and symptoms related to Amyotrophic Lateral Sclerosis 16, Juvenile; Als16

  • Muscle weakness
  • Spasticity
  • Hyperreflexia
  • Paralysis
  • Lower limb spasticity
  • Amyotrophic lateral sclerosis
  • Bulbar palsy
  • Abnormal lower motor neuron morphology
  • Abnormal upper motor neuron morphology

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.

Amyotrophic Lateral Sclerosis 16, Juvenile; Als16 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Amyotrophic Lateral Sclerosis Advanced Evaluation.

By Athena Diagnostics Inc (United States).

SOD1, SQSTM1, TARDBP, UBQLN2, VAPB, VCP, FIG4, OPTN, CHMP2B, DCTN1, C9orf72, FUS, ALS2, SETX, ANG, SIGMAR1, PFN1
Specificity
6 %
Genes
100 %
Nonprevalent Amyotrophic Lateral Sclerosis Advanced Sequencing Evaluation.

By Athena Diagnostics Inc (United States).

SQSTM1, TARDBP, UBQLN2, VAPB, VCP, FIG4, OPTN, CHMP2B, DCTN1, FUS, ALS2, SETX, ANG, SIGMAR1, PFN1
Specificity
7 %
Genes
100 %
Amyotrophic Lateral Sclerosis.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

ATXN2, SOD1, TARDBP, UBQLN2, VAPB, VCP, VEGFA, FIG4, OPTN, SPART, CHMP2B, DCTN1, C9orf72, FUS, ALS2, SETX, ANG, NEFH, SIGMAR1, PFN1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Amyotrophic lateral sclerosis 16 (sequence analysis of SIGMAR1 gene).

By CGC Genetics (Portugal).

SIGMAR1
Specificity
100 %
Genes
100 %
Distal Hereditary Motor Neuropathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SYT2, SLC5A7, BSCL2, BICD2, TRPV4, AARS, LAS1L, REEP1, DCTN1, FBXO38, DYNC1H1, HSPB8, GAN, GARS, SETX, HINT1, DNAJB2, HSPB1, HSPB3, IGHMBP2 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Amyotrophic lateral sclerosis and related disorders Comprehensive panel.

By Connective Tissue Gene Tests (United States).

SOD1, SPG11, SQSTM1, TARDBP, TBK1, TUBA4A, UBQLN2, VAPB, VCP, CHCHD10, FIG4, OPTN, CHMP2B, ARHGEF28, ERBB4, FUS, ALS2, SETX, ANG, HNRNPA1 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Amyotrophic lateral sclerosis and related disorders Deletion/ Duplication panel.

By Connective Tissue Gene Tests (United States).

SOD1, SPG11, SQSTM1, TARDBP, TBK1, TUBA4A, UBQLN2, VAPB, VCP, CHCHD10, FIG4, OPTN, CHMP2B, ARHGEF28, ERBB4, FUS, ALS2, SETX, ANG, HNRNPA1 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Amyotrophic lateral sclerosis and related disorders NGS panel.

By Connective Tissue Gene Tests (United States).

SOD1, SPG11, SQSTM1, TARDBP, TBK1, TUBA4A, UBQLN2, VAPB, VCP, CHCHD10, FIG4, OPTN, CHMP2B, ARHGEF28, ERBB4, FUS, ALS2, SETX, ANG, HNRNPA1 , (...)

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

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Sources and references

You can check the following sources for additional information.

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