Spinocerebellar Ataxia, X-linked 1; Scax1

Description

SCAX1 is an X-linked recessive neurologic disorder characterized by hypotonia at birth, delayed motor development, gait ataxia, difficulty standing, dysarthria, and slow eye movements. Brain MRI shows cerebellar ataxia (summary by Bertini et al., 2000). Genetic Heterogeneity of X-linked Spinocerebellar AtaxiaX-linked recessive spinocerebellar ataxia (SCAX) is a clinically and genetically heterogeneous disorder. See also SCAX2 (OMIM ), SCAX3 (OMIM ), SCAX4 (OMIM ), and SCAX5 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Spinocerebellar Ataxia, X-linked 1; Scax1

  • Generalized hypotonia
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Strabismus
  • Motor delay
  • Spasticity
  • Hyperreflexia
  • Dysarthria
  • Tremor
And another 32 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.


Mendelian

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Spinocerebellar Ataxia, X-linked 1; Scax1 Recommended genes panels

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

By Genetic Services Laboratory University of Chicago in United States.

FMR1, TTR, UBE3A, AARS2, ABHD12, PC, UQCRQ, UQCRB, HLCS, BTD, ATP7B, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, C12orf65, ADSL, PRKCG , (...)

View the complete list with 460 more genes
Specificity
1 %
Genes
100 %
Spinocerebellar ataxia type 1, X-linked.

By Centogene AG - the Rare Disease Company in Germany.

ATP2B3
Specificity
100 %
Genes
50 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
100 %
Ataxia and differential diagnoses Panel.

By CeGaT GmbH in Germany.

FMR1, AARS2, ABHD12, UQCRQ, BTD, ATP7B, AUH, TWNK, PRKCG, PAX6, INPP5E, AMACR, OPA1, WFS1, GLB1, CC2D2A, ELOVL4, TMEM67, NPHP1, CEP290 , (...)

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

By CeGaT GmbH in Germany.

AFG3L2, MTPAP, COQ8A, SPG7, ABCB7, HEXA, HEXB, FXN, APTX, TPP1, WWOX, ATM, MRE11, SACS, TTPA, PLA2G6, SETX, SYNE1, SYT14, ANO10 , (...)

View the complete list with 26 more genes
Specificity
3 %
Genes
50 %
Spinocerebellar ataxia, X-linked 1: ATP2B3 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

ATP2B3
Specificity
100 %
Genes
50 %
ATP2B3.

By Fulgent Genetics Fulgent Genetics in United States.

ATP2B3
Specificity
100 %
Genes
50 %
X-chromosome High Resolution microarray analysis.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center in United States.

ATP7A, OPN1MW, CHM, GPR143, HSD17B10, OCRL, CACNA1F, NDP, HPRT1, NHS, ALAS2, RPGR, MECP2, RS1, PHKA2, RP2, OTC, HCCS, PDHA1, GK , (...)

View the complete list with 140 more genes
Specificity
2 %
Genes
100 %
Caris MI TumorSeek 592-Gene NGS Panel.

By Caris Life Sciences in United States.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, FOXL2, HNF1A, PPARG, COL1A1, WT1, RB1, SDHAF2 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
50 %
X-Linked Spinocerebellar Ataxia Type 1 , Sequencing ATP2B3 Gene.

By Reference Laboratory Genetics in Spain.

ATP2B3
Specificity
100 %
Genes
50 %
CMT Advanced Evaluation - Comprehensive.

By Athena Diagnostics Inc in United States.

GARS, MFN2, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A, EGR2, HSPB1, YARS , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
50 %
CMT Advanced Evaluation - Axonal.

By Athena Diagnostics Inc in United States.

GARS, MFN2, GDAP1, TRPV4, MPZ, NEFL, HSPB8, RAB7A, HSPB1, YARS, DNM2, LMNA, GJB1
Specificity
8 %
Genes
50 %
CMT Advanced Evaluation - Demyelinating.

By Athena Diagnostics Inc in United States.

NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, MPZ, PMP22, LITAF, EGR2, YARS, DNM2, GJB1
Specificity
7 %
Genes
50 %
Connexin32 Evaluation.

By Athena Diagnostics Inc in United States.

GJB1
Specificity
100 %
Genes
50 %
CMT Advanced Evaluation - Initial Genetic Assessment.

By Athena Diagnostics Inc in United States.

MFN2, MPZ, PMP22, GJB1
Specificity
25 %
Genes
50 %
CMT Advanced Evaluation - Nonprevalent.

By Athena Diagnostics Inc in United States.

GARS, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, PMP22, NEFL, HSPB8, LITAF, RAB7A, EGR2, HSPB1, YARS, DNM2, LMNA , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
50 %
CMT Advanced Evaluation - Nonprevalent Demyelinating.

By Athena Diagnostics Inc in United States.

NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, PMP22, LITAF, EGR2, YARS, DNM2, GJB1
Specificity
8 %
Genes
50 %
CMT Advanced Evaluation - Nonprevalent Axonal.

By Athena Diagnostics Inc in United States.

GARS, GDAP1, TRPV4, NEFL, HSPB8, RAB7A, HSPB1, YARS, DNM2, LMNA, GJB1
Specificity
10 %
Genes
50 %
Charcot-Marie-Tooth Hereditary Neuropathy Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

GARS, KIF1B, MFN2, VCP, HARS, KARS, AIFM1, SURF1, NEFH, SLC12A6, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
50 %
Charcot-Marie-Tooth Syndrome.

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

GARS, KIF1B, MFN2, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A, EGR2, HSPB1 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
50 %
Charcot Marie Tooth X-linked.

By Molecular Genetics Laboratory London Health Sciences Centre in Canada.

GJB1
Specificity
100 %
Genes
50 %
Charcot Marie Tooth Panel.

By Molecular Genetics Laboratory London Health Sciences Centre in Canada.

TTR, GARS, KIF1B, MFN2, AIFM1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
50 %
Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

ATP7A, FBLN5, GARS, KIF1B, MFN2, HARS, KARS, SPTLC2, REEP1, AIFM1, HEXA, HK1, ELP1, SLC12A6, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2 , (...)

View the complete list with 58 more genes
Specificity
2 %
Genes
50 %
Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel Sequencing.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

ATP7A, FBLN5, GARS, KIF1B, MFN2, HARS, KARS, SPTLC2, REEP1, AIFM1, HEXA, HK1, ELP1, SLC12A6, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2 , (...)

View the complete list with 58 more genes
Specificity
2 %
Genes
50 %
Charcot-Marie-Tooth.

By Human Genetics University Hospital Bern in Switzerland.

GARS, SEPT9, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, MPZ, PMP22, NEFL, LITAF, RAB7A, EGR2, YARS, DNM2, GJB1, BSCL2 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
50 %
Connexin 32 (CX32 / GJB1) gene sequencing test.

By Neurogenetics Department Cyprus Institute of Neurology and Genetics in Cyprus.

GJB1
Specificity
100 %
Genes
50 %
GJB1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

GJB1
Specificity
100 %
Genes
50 %
DNM2, GARS, GDAP1, GJB1, MFN2, MPZ, MTMR2, NEFL, PMP22, PRX. NextGeneDx.Complete sequencing by NGS.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

GARS, MFN2, PRX, MTMR2, GDAP1, MPZ, PMP22, NEFL, DNM2, GJB1
Specificity
10 %
Genes
50 %
GJB1. MLPA testing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

GJB1
Specificity
100 %
Genes
50 %
Charcot-Marie-Tooth disease X-linked (CMTX1, sequence analysis of GJB1 gene).

By CGC Genetics in Portugal.

GJB1
Specificity
100 %
Genes
50 %
Charcot-Marie-Tooth disease X-linked (CMTX, deletion/duplication analysis on GJB1).

By CGC Genetics in Portugal.

GJB1
Specificity
100 %
Genes
50 %
Hereditary peripheral neuropathies, including Charcot-Marie-Tooth disease (NGS panel for 74 genes).

By CGC Genetics in Portugal.

TTR, ABHD12, TWNK, C12orf65, GARS, KIF1B, MFN2, KARS, SPTLC2, REEP1, TYMP, AIFM1, PHYH, HK1, SEPT9, ELP1, SLC12A6, NDRG1, SBF2, PRX , (...)

View the complete list with 54 more genes
Specificity
2 %
Genes
50 %
Charcot-Marie-Tooth disease (NGS panel for 43 genes).

By CGC Genetics in Portugal.

C12orf65, GARS, KIF1B, MFN2, KARS, AIFM1, HK1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
50 %
X-linked Charcot Marie Tooth Disease.

By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital in India.

GJB1
Specificity
100 %
Genes
50 %
Charcot Marie Tooth - Demyelinating Neuropathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

FBLN5, KARS, HK1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, MPZ, PMP22, NEFL, LITAF, EGR2, YARS, DNM2, GJB1, INF2 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
50 %
Charcot Marie Tooth - Comprehensive Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

FBLN5, GARS, MFN2, KARS, AIFM1, HK1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
50 %
Comprehensive Neuropathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TTR, ATP7A, FBLN5, GARS, MFN2, KARS, SPTLC2, REEP1, AIFM1, HK1, ELP1, SLC12A6, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1 , (...)

View the complete list with 51 more genes
Specificity
2 %
Genes
50 %
Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PC, TYROBP, ATP7A, ATP7B, TWNK, ADSL, HSD17B4, CPS1, PSAP, GLB1, OCRL, POLG, NDUFS4, HSPD1, SLC25A4, RRM2B, FH, COQ9, DNM1L, DGUOK , (...)

View the complete list with 134 more genes
Specificity
1 %
Genes
50 %
Atrial fibrillation Deletion / Duplication test.

By Connective Tissue Gene Tests in United States.

C12orf65, GARS, HADHB, AIFM1, GLA, FIG4, FGD4, GDAP1, EGR2, HSPB1, DNM2, GJB1, BSCL2, DYNC1H1, COX6A1, GNB4, DHTKD1, AARS, ATP1A1
Specificity
6 %
Genes
50 %
Atrial fibrillation Comprehensive test.

By Connective Tissue Gene Tests in United States.

C12orf65, GARS, HADHB, AIFM1, GLA, FIG4, FGD4, GDAP1, EGR2, HSPB1, DNM2, GJB1, BSCL2, DYNC1H1, COX6A1, GNB4, DHTKD1, AARS, ATP1A1
Specificity
6 %
Genes
50 %
Atrial fibrillation NGS test.

By Connective Tissue Gene Tests in United States.

C12orf65, GARS, HADHB, AIFM1, GLA, FIG4, FGD4, GDAP1, EGR2, HSPB1, DNM2, GJB1, BSCL2, DYNC1H1, COX6A1, GNB4, DHTKD1, AARS, ATP1A1
Specificity
6 %
Genes
50 %
Charcot-Marie-Tooth disease Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

C12orf65, GARS, KIF1B, MFN2, KARS, HADHB, AIFM1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
50 %
Charcot-Marie-Tooth disease NGS panel.

By Connective Tissue Gene Tests in United States.

C12orf65, GARS, KIF1B, MFN2, KARS, HADHB, AIFM1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
50 %
Charcot-Marie-Tooth disease Comprehensive panel.

By Connective Tissue Gene Tests in United States.

C12orf65, GARS, KIF1B, MFN2, KARS, HADHB, AIFM1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
50 %
Distal hereditary motor neuropathy and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

ATP7A, GARS, HARS, REEP1, TRPV4, HSPB8, HSPB1, GJB1, BSCL2, SIGMAR1, SETX, DCTN1, BICD2, DYNC1H1, HSPB3, IGHMBP2, PLEKHG5, PDK3, DNAJB2, HINT1 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
50 %
Distal hereditary motor neuropathy and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

ATP7A, GARS, HARS, REEP1, TRPV4, HSPB8, HSPB1, GJB1, BSCL2, SIGMAR1, SETX, DCTN1, BICD2, DYNC1H1, HSPB3, IGHMBP2, PLEKHG5, PDK3, DNAJB2, HINT1 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
50 %
Distal hereditary motor neuropathy and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

ATP7A, GARS, HARS, REEP1, TRPV4, HSPB8, HSPB1, GJB1, BSCL2, SIGMAR1, SETX, DCTN1, BICD2, DYNC1H1, HSPB3, IGHMBP2, PLEKHG5, PDK3, DNAJB2, HINT1 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
50 %
Neuropathy.

By MGZ Medical Genetics Center in Germany.

TTR, ABHD12, ATP7A, C12orf65, GAA, FBLN5, OPTN, AMACR, POLG, GARS, MFN2, HADHA, VCP, HARS, KARS, SPTLC2, REEP1, HADHB, TYMP, SQSTM1 , (...)

View the complete list with 102 more genes
Specificity
1 %
Genes
50 %
Charcot-Marie-Tooth Neuropathy X Type 1.

By MGZ Medical Genetics Center in Germany.

GJB1
Specificity
100 %
Genes
50 %
Charcot-Marie-Tooth Neuropathy X Type 1.

By Bioscientia GmbH Center for Human Genetics in Germany.

GJB1
Specificity
100 %
Genes
50 %
Charcot-Marie-Tooth disease.

By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München in Germany.

MFN2, MPZ, PMP22, GJB1
Specificity
25 %
Genes
50 %
Dejerine-Sottas disease.

By Centogene AG - the Rare Disease Company in Germany.

GJB1
Specificity
100 %
Genes
50 %
CMTX1.

By Centogene AG - the Rare Disease Company in Germany.

GJB1
Specificity
100 %
Genes
50 %
Charcot-Marie-Tooth Neuropathy Type 1.

By bio.logis Center for Human Genetics Diagnosticum in Germany.

GJB1
Specificity
100 %
Genes
50 %
Charcot-Marie-Tooth and Sensory Neuropathies Panel.

By CeGaT GmbH in Germany.

TTR, ABHD12, TWNK, C12orf65, FBLN5, OPA1, POLG, GARS, KIF1B, MFN2, HADHA, HARS, KARS, SPTLC2, REEP1, HADHB, TYMP, AIFM1, SURF1, HK1 , (...)

View the complete list with 64 more genes
Specificity
2 %
Genes
50 %
Single gene testing GJB1.

By CeGaT GmbH in Germany.

GJB1
Specificity
100 %
Genes
50 %
GJB1 - Gene sequencing.

By Clinical Genetics Academic Medical Center in Netherlands.

GJB1
Specificity
100 %
Genes
50 %
Charcot-Marie-Tooth Neuropathy X Type 1 (GJB1).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

GJB1
Specificity
100 %
Genes
50 %
Charcot-Marie-Tooth Disease.

By Asper Biogene Asper Biogene LLC in Estonia.

C12orf65, POLG, GARS, KIF1B, MFN2, VCP, HARS, KARS, SPTLC2, REEP1, TYMP, AIFM1, SURF1, NAGLU, HK1, ARSA, NDRG1, SBF2, PRX, FIG4 , (...)

View the complete list with 47 more genes
Specificity
2 %
Genes
50 %
CMT, GJB1 (cx32) sequencing.

By Molecular Diagnostics Laboratory Seoul National University Hospital in South Korea.

GJB1
Specificity
100 %
Genes
50 %
Charcot-Marie-Tooth X-linked.

By Praxis fuer Humangenetik Wien in Austria.

GJB1
Specificity
100 %
Genes
50 %
Charcot-Marie-Tooth X-linked.

By MedGene in Slovakia.

GJB1
Specificity
100 %
Genes
50 %
Invitae Comprehensive Neuropathies Panel.

By Invitae in United States.

TTR, ATP7A, GARS, MFN2, HARS, SPTLC2, REEP1, AIFM1, ELP1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22 , (...)

View the complete list with 50 more genes
Specificity
2 %
Genes
50 %
Invitae Charcot-Marie-Tooth Disease Comprehensive Panel.

By Invitae in United States.

GARS, MFN2, HARS, AIFM1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A, EGR2 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
50 %
Invitae Charcot-Marie-Tooth Disease X-linked Panel.

By Invitae in United States.

AIFM1, GJB1, PRPS1, PDK3
Specificity
25 %
Genes
50 %
Charcot Marie-Tooth disease: Connexin 32 (GJB1) gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

GJB1
Specificity
100 %
Genes
50 %
CHARCOT- MARIE TOOTH.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

GARS, KIF1B, MFN2, HK1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A, EGR2 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
50 %
Hereditary Neuropathies: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TTR, ATP7A, TWNK, PRKCG, POLG, GARS, KIF1B, MFN2, SPTLC2, COQ8A, REEP1, SPG7, ALDH3A2, PHYH, FXN, APTX, ELP1, GLA, PLP1, ATM , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
50 %
Hereditary Neuropathies: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TTR, ATP7A, TWNK, PRKCG, POLG, GARS, KIF1B, MFN2, SPTLC2, COQ8A, REEP1, SPG7, ALDH3A2, PHYH, FXN, APTX, ELP1, GLA, PLP1, ATM , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
50 %
Hereditary Neuropathies NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

TTR, GARS, KIF1B, MFN2, SPTLC2, GLA, NDRG1, SBF2, PRX, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
50 %
Charcot Marie Tooth Disease Extended NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

TTR, ATP7A, GARS, KIF1B, MFN2, SPTLC2, REEP1, ELP1, GLA, SLC12A6, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
50 %
GJB1.

By Fulgent Genetics Fulgent Genetics in United States.

GJB1
Specificity
100 %
Genes
50 %
Charcot-Marie-Tooth Neuropathy Panel.

By Blueprint Genetics in Finland.

TTR, ATP7A, C12orf65, FBLN5, AMACR, GNE, POLG, GARS, KIF1B, MFN2, VCP, HARS, KARS, SPTLC2, REEP1, HADHB, TYMP, AIFM1, SURF1, HK1 , (...)

View the complete list with 78 more genes
Specificity
2 %
Genes
50 %
X-linked Charcot-Marie-Tooth disease type 1.

By Bioarray in Spain.

GJB1
Specificity
100 %
Genes
50 %
CarrierMap.

By Recombine in United States.

FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, PC, USH1C, ALPL, ARG1, HLCS, ATP7A, BTD, ATP7B, BCKDHA , (...)

View the complete list with 281 more genes
Specificity
1 %
Genes
50 %
Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel.

By Otogenetics in United States.

USH1G, USH1C, BCS1L, PDZD7, EYA4, WFS1, JAG1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, MSRB3, MYO7A, TIMM8A, SOX2, FGFR3 , (...)

View the complete list with 109 more genes
Specificity
1 %
Genes
50 %
CHARCOT-MARIE-TOOTH DISEASE TYPE 1X (X-LINKED).

By Laboratorio de Genetica Clinica SL in Spain.

GJB1
Specificity
100 %
Genes
50 %
CHARCOT-MARIE-TOOTH : NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

GARS, KIF1B, MFN2, KARS, HK1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
50 %
Charcot-Marie-Tooth neuropathy demyelinating panel.

By LifeLabs Genetics in Canada.

NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, MPZ, PMP22, NEFL, LITAF, EGR2, GJB1, PRPS1, CTDP1
Specificity
7 %
Genes
50 %
X-Linked Charcot-Marie-Tooth Disease Type 1, Sequencing (CONNEXIN 32) GJB1 Gene.

By Reference Laboratory Genetics in Spain.

GJB1
Specificity
100 %
Genes
50 %
X-Linked Charcot-Marie-Tooth Disease Type 1 , Deletions-Duplications (MLPA) GJB1 Gene.

By Reference Laboratory Genetics in Spain.

GJB1
Specificity
100 %
Genes
50 %
Hereditary Peripheral Neuropathy , Panel Massive Sequencing (NGS) 31 Genes.

By Reference Laboratory Genetics in Spain.

GARS, KIF1B, MFN2, PHYH, PEX7, SLC12A6, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
50 %
Charcot-Marie-Tooth Disease, Panel Massive Sequencing (NGS) 32 Genes.

By Reference Laboratory Genetics in Spain.

GARS, KIF1B, MFN2, HK1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A, EGR2 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
50 %
Motor Neuron Disorder and Related Diseases , Panel Massive Sequencing (NGS) 49 Genes.

By Reference Laboratory Genetics in Spain.

ATP7A, OCRL, GARS, KIF1B, MFN2, VCP, KARS, REEP1, ELP1, SMN1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
50 %

Alternate names

Spinocerebellar Ataxia, X-linked 1; Scax1 Is also known as olivopontocerebellar atrophy, x-linked, opca, x-linked;opcax;.


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