Amyotrophic Lateral Sclerosis 18; Als18

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Genes related to Amyotrophic Lateral Sclerosis 18; Als18

PFN1

View recommended genes panels

Clinical Features

Phenotypes and symptoms related to Amyotrophic Lateral Sclerosis 18; Als18

Muscle weakness
Spasticity
Dysarthria
Skeletal muscle atrophy
Dysphagia
Fasciculations
Amyotrophic lateral sclerosis

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 18; Als18 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 Panel complete gene list ATXN2, SOD1, TARDBP, UBQLN2, VAPB, VCP, VEGFA, FIG4, OPTN, SPART, CHMP2B, DCTN1, C9orf72, FUS, ALS2, SETX, ANG, NEFH, SIGMAR1, PFN1, PRPH2 Specificity 5 % Genes 100 %
Amyotrophic lateral sclerosis 18 (sequence analysis of PFN1 gene). By CGC Genetics (Portugal). PFN1 Specificity 100 % Genes 100 %
Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). SOD1, SQSTM1, TARDBP, TBK1, UBQLN2, VAPB, VCP, OPTN, CDH13, TREM2, CHMP2B, C9orf72, ARHGEF28, FUS, SETX, GRN, ANG, HNRNPA1, HNRNPA2B1, ANXA11 , (...) View the complete list with 5 more genes Panel complete gene list SOD1, SQSTM1, TARDBP, TBK1, UBQLN2, VAPB, VCP, OPTN, CDH13, TREM2, CHMP2B, C9orf72, ARHGEF28, FUS, SETX, GRN, ANG, HNRNPA1, HNRNPA2B1, ANXA11, KIF5A, MAPT, PFN1, PSEN1, PSEN2 Specificity 4 % Genes 100 %
Amyotrophic Lateral Sclerosis/Motor Neuron Disease via PFN1 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics (United States). PFN1 Specificity 100 % 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 Panel complete gene list SOD1, SPG11, SQSTM1, TARDBP, TBK1, TUBA4A, UBQLN2, VAPB, VCP, CHCHD10, FIG4, OPTN, CHMP2B, ARHGEF28, ERBB4, FUS, ALS2, SETX, ANG, HNRNPA1, HNRNPA2B1, MATR3, SIGMAR1, PFN1 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 Panel complete gene list SOD1, SPG11, SQSTM1, TARDBP, TBK1, TUBA4A, UBQLN2, VAPB, VCP, CHCHD10, FIG4, OPTN, CHMP2B, ARHGEF28, ERBB4, FUS, ALS2, SETX, ANG, HNRNPA1, HNRNPA2B1, MATR3, SIGMAR1, PFN1 Specificity 5 % Genes 100 %

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Sources and references

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