PRKCG gene related symptoms and diseases
All the information presented here about the PRKCG gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to PRKCG gene
Symptoms // Phenotype | % Cases |
---|---|
Dysarthria | Very Common - Between 80% and 100% cases |
Tremor | Very Common - Between 80% and 100% cases |
Myoclonus | Very Common - Between 80% and 100% cases |
Gait ataxia | Very Common - Between 80% and 100% cases |
Cognitive impairment | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with PRKCG gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Progressive cerebellar ataxia
Not very common - Between 30% and 50% cases
- Generalized hypotonia
- Memory impairment
- Attention deficit hyperactivity disorder
- Dysmetria
- Abnormal cerebellum morphology
- Chorea
- Focal dystonia
And 23 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to PRKCG gene
Here you will find a list of rare diseases related to the PRKCG. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
SPINOCEREBELLAR ATAXIA TYPE 14
Alternate names
SPINOCEREBELLAR ATAXIA TYPE 14 Is also known as sca14
Description
Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive ataxia, dysarthria and nystagmus.
Most common symptoms of SPINOCEREBELLAR ATAXIA TYPE 14
- Generalized hypotonia
- Cognitive impairment
- Dysarthria
- Tremor
- Myoclonus
More info about SPINOCEREBELLAR ATAXIA TYPE 14
SOURCES: ORPHANET
SPINOCEREBELLAR ATAXIA 14; SCA14
Most common symptoms of SPINOCEREBELLAR ATAXIA 14; SCA14
- Ataxia
- Nystagmus
- Cognitive impairment
- Hyperreflexia
- Dysarthria
More info about SPINOCEREBELLAR ATAXIA 14; SCA14
SOURCES: OMIM
Search interest in PRKCG
Potential gene panels for PRKCG gene
MitoMet®Plus aCGH Analysis Panel
By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65
More info about this panelPRKCG Sequence Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the PRKCG gene.
More info about this panelPRKCG Sequence Analysis (Prenatal Diagnosis) Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the PRKCG gene.
More info about this panelPRKCG Comprehensive - Sequence & Deletion/Duplication Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the PRKCG gene.
More info about this panelPRKCG Deletion/Duplication Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the PRKCG gene.
More info about this panelAtaxia, Comprehensive Evaluation Panel
By Athena Diagnostics Inc Ataxia, Comprehensive Evaluation that also includes the following genes: SACS ATXN1 ATXN10 ATXN2 ATXN7 ATXN8OS SLC1A3 SPTBN2 TBP TTPA
More info about this panelAtaxia, Supplemental Dominant Evaluation Panel
By Athena Diagnostics Inc Ataxia, Supplemental Dominant Evaluation that also includes the following genes: SLC1A3 SPTBN2 VAMP1 CACNA1A CACNB4 TGM6 TTBK2 AFG3L2 EEF2 FGF14
More info about this panelAtaxia, Complete Dominant Evaluation Panel
By Athena Diagnostics Inc Ataxia, Complete Dominant Evaluation that also includes the following genes: ATXN1 ATXN10 ATXN2 ATXN7 ATXN8OS SLC1A3 SPTBN2 TBP VAMP1 CACNA1A
More info about this panelRetinitis Pigmentosa Panel Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Retinitis Pigmentosa Panel that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR SAG SEMA4A
More info about this panelAtaxia Exome Panel Panel
By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2
More info about this panelSpinocerebellar ataxia 14 Panel
By Human Genetics University Hospital Bern
This panel specifically test the PRKCG gene.
More info about this panelSpinocerebellar Ataxia 14 Panel
By Laboratorio di Neurogenetica Istituto di Farmacologia Traslazionale - CNR
This panel specifically test the PRKCG gene.
More info about this panelPRKCG. Sequencing of the exon 4 Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the PRKCG gene.
More info about this panelPRKCG. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the PRKCG gene.
More info about this panelSpinocerebellar Ataxia type 14 (SCA 14, sequence analysis of PRKCG gene) Panel
By CGC Genetics
This panel specifically test the PRKCG gene.
More info about this panelHereditary ataxias (NGS panel for 44 genes) Panel
By CGC Genetics Hereditary ataxias (NGS panel for 44 genes) that also includes the following genes: SACS SLC1A3 SPTBN2 TTPA VAMP1 VLDLR CACNA1A CACNB4 ELOVL4 ABHD12
More info about this panelAutosomal Dominant Retinitis Pigmentosa Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Autosomal Dominant Retinitis Pigmentosa Sequencing Panel with CNV Detection that also includes the following genes: RHO ROM1 RP1 RPE65 SEMA4A BEST1 CA4 C1QTNF5 PRPF31 KLHL7
More info about this panelRetinitis Pigmentosa (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Retinitis Pigmentosa (includes RPGR ORF15) Sequencing Panel with CNV Detection that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RPE65 RPGR SAG SEMA4A TULP1
More info about this panelComprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panelMental retardation - different panels Panel
By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10
More info about this panelNeurogenetic Disorders - panels Panel
By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2
More info about this panelAtaxia (AD/AR) panel Panel
By Genome Diagnostics Laboratory University Medical Center Utrecht Ataxia (AD/AR) panel that also includes the following genes: ATXN1 ATXN2 ATXN7 TBP CACNA1A APTX AFG3L2 FGF14 FXN SETX
More info about this panelSpinocerebellar ataxia type 14 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the PRKCG gene.
More info about this panelAllNeuro panel Panel
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panelAtaxia and differential diagnoses Panel Panel
By CeGaT GmbH Ataxia and differential diagnoses Panel that also includes the following genes: RPIA SACS ATXN1 ATXN10 ATXN2 ATXN7 SCN2A SLC17A5 SLC1A3 SLC6A1
More info about this panelSingle gene testing PRKCG Panel
By CeGaT GmbH
This panel specifically test the PRKCG gene.
More info about this panelAtaxia, autosomal dominant and X-linked Panel Panel
By CeGaT GmbH Ataxia, autosomal dominant and X-linked Panel that also includes the following genes: ATXN1 ATXN10 ATXN2 ATXN7 SLC1A3 SPG7 SPTBN2 TBP VAMP1 VLDLR
More info about this panelAutosomal Dominant Retinitis Pigmentosa Panel
By Asper Biogene Asper Biogene LLC Autosomal Dominant Retinitis Pigmentosa that also includes the following genes: RHO ROM1 RP1 RP9 RPE65 SEMA4A BEST1 CA4 PRPF31 KLHL7
More info about this panelSpinocerebellar Ataxia Panel
By Asper Biogene Asper Biogene LLC Spinocerebellar Ataxia that also includes the following genes: SACS SLC9A1 SLC9A6 SPTBN2 STUB1 TWNK ACO2 TTPA WFS1 WWOX
More info about this panelSpinocerebellar Ataxia 14 Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the PRKCG gene.
More info about this panelSpinocerebellar Ataxia 14 Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the PRKCG gene.
More info about this panelSpinocerebellar Ataxia 14 Panel
By MedGene
This panel specifically test the PRKCG gene.
More info about this panelSpinocerebellar Ataxia 14 Panel
By MedGene
This panel specifically test the PRKCG gene.
More info about this panelSpinocerebellar ataxia type 14 (SCA14): PRKCG gene sequence analysis (exon 4) Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the PRKCG gene.
More info about this panelSpinocerebellar Ataxia type 14 (SCA14): PRKCG gene sequence analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the PRKCG gene.
More info about this panelNOONAN, LEOPARD, COSTELLO and CARDIOFACIOCUTANEOUS SYNDROME Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases NOONAN, LEOPARD, COSTELLO and CARDIOFACIOCUTANEOUS SYNDROME that also includes the following genes: RIT1 SHOX BRAF SOS1 SPRY2 SRC CD2AP GAB2 CBL SHOC2
More info about this panelSpinocerebellar ataxia Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Spinocerebellar ataxia that also includes the following genes: SACS ATXN1 ATXN10 ATXN2 ATXN7 SLC1A3 SPTBN2 TBP TTPA VLDLR
More info about this panelAtaxia Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Ataxia that also includes the following genes: SACS SLC1A3 SPTBN2 TTPA CACNA1A CACNB4 APTX TGM6 COQ8A SYNE1
More info about this panelHereditary Neuropathies: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Neuropathies: Sequencing Panel that also includes the following genes: SACS SCN9A SLC12A6 SLC1A3 SPG11 ATL1 SPAST SPG7 SPTBN2 SPTLC1
More info about this panelHereditary Neuropathies: Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Neuropathies: Deletion/Duplication Panel that also includes the following genes: SACS SCN9A SLC12A6 SLC1A3 SPG11 ATL1 SPAST SPG7 SPTBN2 SPTLC1
More info about this panelPRKCG Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PRKCG gene.
More info about this panelRetinal Dystrophy Panel Panel
By Blueprint Genetics Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RPE65 RPGR RS1 CNNM4
More info about this panelAtaxia Panel Panel
By Blueprint Genetics Ataxia Panel that also includes the following genes: SACS SLC1A3 SLC20A2 SLC2A1 SLC9A6 SPG7 SPTBN2 STUB1 TWNK ACO2
More info about this panelRetinitis Pigmentosa Panel Panel
By Blueprint Genetics Retinitis Pigmentosa Panel that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RPE65 RPGR RS1 SAG CWC27
More info about this panelSpinocerebellar ataxia type 14 Panel
By Bioarray
This panel specifically test the PRKCG gene.
More info about this panelExome Panel
By DNA CONSULT GENETICA E BIOTECNOLOGIA LTDA. Exome that also includes the following genes: RPL10 ATXN1 ATXN2 ATXN8OS SEMA3E GEMIN2 BRAF BRCA1 BRCA2 SOX9
More info about this panelSPINOCEREBELLAR ATAXIA (AUTOSOMAL DOMINANT) (SCAs) Panel
By Laboratorio de Genetica Clinica SL SPINOCEREBELLAR ATAXIA (AUTOSOMAL DOMINANT) (SCAs) that also includes the following genes: ATXN1 ATXN10 ATXN2 ATXN7 ATXN8OS SPTBN2 TBP CACNA1A NOP56 TGM6
More info about this panelSPINOCEREBELLAR ATAXIA NGS PANEL Panel
By Laboratorio de Genetica Clinica SL SPINOCEREBELLAR ATAXIA NGS PANEL that also includes the following genes: SPTBN2 STUB1 TWNK TTPA WWOX CA8 CACNA1A CACNA1G ELOVL4 APTX
More info about this panelSpinocerebellar ataxia panel Panel
By LifeLabs Genetics Spinocerebellar ataxia panel that also includes the following genes: ATXN1 ATXN10 ATXN2 ATXN7 ATXN8OS SPTBN2 TBP VAMP1 CACNA1A NOP56
More info about this panelSpinocerebellar Ataxia Type 14, Sequencing PRKCG Gene (SCA14) Panel
By Reference Laboratory Genetics
This panel specifically test the PRKCG gene.
More info about this panelSpinocerebellar Ataxia Type 14 , Sequencing Exon 4 PRKCG Gene (SCA14) Panel
By Reference Laboratory Genetics
This panel specifically test the PRKCG gene.
More info about this panelAtaxia Related Disorders , Panel Massive Sequencing (NGS) 35 Genes Panel
By Reference Laboratory Genetics Ataxia Related Disorders , Panel Massive Sequencing (NGS) 35 Genes that also includes the following genes: SACS ATXN1 ATXN10 ATXN2 ATXN7 SPTBN2 TBP TTPA VLDLR CACNA1A
More info about this panelSpinocerebellar Ataxia Type 14: gene sequencing Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the PRKCG gene.
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