Spinocerebellar Ataxia, Autosomal Recessive 14; Scar14

Description

mutations, characterized by global development delay in infancy, followed by childhood-onset gait ataxia with limb dysmetria and dysdiadochokinesia, mild to severe intellectual disability, development of cerebellar atrophy, and abnormal eye movements (including a convergent squint, hypometric saccades, jerky pursuit movements and incomplete range of movement).

Clinical Features

Top most frequent phenotypes and symptoms related to Spinocerebellar Ataxia, Autosomal Recessive 14; Scar14

  • Global developmental delay
  • Ataxia
  • Nystagmus
  • Strabismus
  • Motor delay
  • Cognitive impairment
  • Spasticity
  • Delayed speech and language development
  • Dysarthria
  • Hyperreflexia
And another 21 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.


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Spinocerebellar Ataxia, Autosomal Recessive 14; Scar14 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Ataxia, Comprehensive Evaluation.

By Athena Diagnostics Inc in United States.

PRKCG, POLG, AFG3L2, MTPAP, COQ8A, FLVCR1, FXN, APTX, ATXN1, ATM, MRE11, SACS, TTPA, PPP2R2B, ATXN2, ATXN3, ATXN10, ATXN7, CACNA1A, TBP , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
100 %
Ataxia, Supplemental Dominant Evaluation.

By Athena Diagnostics Inc in United States.

PRKCG, AFG3L2, CACNA1A, KCNA1, CACNB4, SLC1A3, VAMP1, EEF2, KCND3, KCNC3, ITPR1, PDYN, FGF14, TGM6, TTBK2, SPTBN2
Specificity
7 %
Genes
100 %
Ataxia, Complete Dominant Evaluation.

By Athena Diagnostics Inc in United States.

PRKCG, AFG3L2, ATXN1, PPP2R2B, ATXN2, ATXN3, ATXN10, ATXN7, CACNA1A, TBP, ATXN8OS, ATN1, KCNA1, CACNB4, SLC1A3, VAMP1, EEF2, KCND3, KCNC3, ITPR1 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
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 %
SPTBN2. Complete sequencing.

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

SPTBN2
Specificity
100 %
Genes
100 %
Spinocerebellar Ataxia type 5 (sequence analysis of SPTBN2 gene).

By CGC Genetics in Portugal.

SPTBN2
Specificity
100 %
Genes
100 %
Hereditary ataxias (NGS panel for 44 genes).

By CGC Genetics in Portugal.

ABHD12, PRKCG, ELOVL4, POLG, AFG3L2, MTPAP, COQ8A, ABCB7, FXN, APTX, ATM, MRE11, MTTP, SACS, TTPA, CACNA1A, SETX, SYNE1, KCNA1, CACNB4 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center in Germany.

MTHFR, TTR, UBE3A, AARS2, ABHD12, ACAD9, ACADM, ACADS, AGL, ACADVL, YARS2, PC, UQCRQ, ARG1, UQCRB, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA , (...)

View the complete list with 577 more genes
Specificity
1 %
Genes
100 %
Spinocerebellar ataxia type 5.

By Centogene AG - the Rare Disease Company in Germany.

SPTBN2
Specificity
100 %
Genes
100 %
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 %
Spinocerebellar ataxia 5.

By Medical Genetics Laboratory Diagenom GmbH in Germany.

SPTBN2
Specificity
100 %
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 dominant and X-linked Panel.

By CeGaT GmbH in Germany.

PRKCG, ELOVL4, AFG3L2, SPG7, ATXN1, PPP2R2B, ATXN2, ATXN3, ATXN10, ATXN7, CACNA1A, TBP, ATN1, KCNA1, CACNB4, SLC1A3, VAMP1, EEF2, KCND3, KCNC3 , (...)

View the complete list with 14 more genes
Specificity
3 %
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
100 %
Spinocerebellar Ataxia.

By Asper Biogene Asper Biogene LLC in Estonia.

ABHD12, TWNK, PRKCG, WFS1, ELOVL4, AFG3L2, ACO2, COQ8A, DARS2, POLG2, FLVCR1, ABCB7, SLC9A6, PHYH, FXN, CYP27A1, APTX, TPP1, WWOX, NPC1 , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
100 %
Spinocerebellar Ataxia 05.

By Praxis fuer Humangenetik Wien in Austria.

SPTBN2
Specificity
100 %
Genes
100 %
Spinocerebellar Ataxia 05.

By MedGene in Slovakia.

SPTBN2
Specificity
100 %
Genes
100 %
Spinocerebellar ataxia type 5 (SCA5): SPTBN2 gene screening.

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

SPTBN2
Specificity
100 %
Genes
100 %
Spinocerebellar ataxia type 5 (SCA5): SPTBN2 gene sequence analysis.

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

SPTBN2
Specificity
100 %
Genes
100 %
Spinocerebellar ataxia.

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

PRKCG, POLG, AFG3L2, COQ9, PDSS2, PDSS1, COQ8A, COQ2, FXN, APTX, ATXN1, SACS, TTPA, PPP2R2B, ATXN2, ATXN3, ATXN10, ATXN7, CACNA1A, TBP , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
Ataxia.

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

PRKCG, POLG, AFG3L2, MTPAP, COQ8A, FXN, APTX, ATM, MRE11, MTTP, SACS, TTPA, CACNA1A, SETX, SYNE1, KCNA1, CACNB4, SLC1A3, SYT14, ANO10 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %
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
100 %
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
100 %
SPTBN2.

By Fulgent Genetics Fulgent Genetics in United States.

SPTBN2
Specificity
100 %
Genes
100 %
Ataxia Panel.

By Blueprint Genetics in Finland.

FMR1, ABHD12, TWNK, PRKCG, PAX6, INPP5E, OPA1, WFS1, CC2D2A, ELOVL4, TMEM67, ARL6, NPHP1, MKKS, CEP290, TTC8, TRIM32, POLG, NDUFS4, AFG3L2 , (...)

View the complete list with 137 more genes
Specificity
1 %
Genes
100 %
Spinocerebellar ataxia type 5.

By Bioarray in Spain.

SPTBN2
Specificity
100 %
Genes
100 %
SPINOCEREBELLAR ATAXIA (AUTOSOMAL DOMINANT) (SCAs).

By Laboratorio de Genetica Clinica SL in Spain.

PRKCG, AFG3L2, ATXN1, PPP2R2B, ATXN2, ATXN3, ATXN10, ATXN7, CACNA1A, TBP, ATXN8OS, KCND3, KCNC3, ITPR1, FGF14, TGM6, TTBK2, SPTBN2, NOP56
Specificity
6 %
Genes
100 %
Spinocerebellar ataxia panel.

By LifeLabs Genetics in Canada.

PRKCG, AFG3L2, ATXN1, PPP2R2B, ATXN2, ATXN3, ATXN10, ATXN7, CACNA1A, TBP, ATXN8OS, ATN1, VAMP1, KCND3, KCNC3, ITPR1, PDYN, FGF14, TGM6, TTBK2 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Spinocerebellar ataxia type 5, autosomal dominant.

By LifeLabs Genetics in Canada.

SPTBN2
Specificity
100 %
Genes
100 %
Spinocerebellar Ataxia Type 5 , Sequencing SPTBN2 Gene (SCA5).

By Reference Laboratory Genetics in Spain.

SPTBN2
Specificity
100 %
Genes
100 %
Ataxia Related Disorders , Panel Massive Sequencing (NGS) 35 Genes.

By Reference Laboratory Genetics in Spain.

PRKCG, POLG, AFG3L2, COQ9, PDSS2, PDSS1, COQ8A, COQ2, FXN, APTX, ATXN1, SACS, TTPA, PPP2R2B, ATXN2, ATXN3, ATXN10, ATXN7, CACNA1A, TBP , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %

Alternate names

Spinocerebellar Ataxia, Autosomal Recessive 14; Scar14 Is also known as cerebellar ataxia, autosomal recessive, spectrin-associated, 1;sparca1;ataxie spinocérébelleuse à début infantile avec retard psychomoteur; autosomal recessive spinocerebellar ataxia type 14; infantile-onset spinocerebellar ataxia-psychomotor delay syndrome; scar14; sparca; sparca1; spectrin-associated autosomal recessive cerebellar ataxia type 1.



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