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


Potential gene panels for PRKCG gene

MitoMet®Plus aCGH Analysis Panel

United States.

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 panel
United States.

PRKCG Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the PRKCG gene.

More info about this panel
United States.

PRKCG Sequence Analysis (Prenatal Diagnosis) Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the PRKCG gene.

More info about this panel
United States.

PRKCG Comprehensive - Sequence & Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the PRKCG gene.

More info about this panel
United States.

PRKCG Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the PRKCG gene.

More info about this panel
United States.

Ataxia, Comprehensive Evaluation Panel

United States.

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 panel
United States.

Ataxia, Supplemental Dominant Evaluation Panel

United States.

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 panel
United States.

Ataxia, Complete Dominant Evaluation Panel

United States.

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 panel
United States.

Retinitis Pigmentosa Panel Panel

United States.

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 panel
United States.

Ataxia Exome Panel Panel

United States.

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 panel
United States.

Spinocerebellar ataxia 14 Panel

Switzerland.

By Human Genetics University Hospital Bern

This panel specifically test the PRKCG gene.

More info about this panel
Switzerland.

Spinocerebellar Ataxia 14 Panel

Italy.

By Laboratorio di Neurogenetica Istituto di Farmacologia Traslazionale - CNR

This panel specifically test the PRKCG gene.

More info about this panel
Italy.

PRKCG. Sequencing of the exon 4 Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the PRKCG gene.

More info about this panel
Spain.

PRKCG. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the PRKCG gene.

More info about this panel
Spain.

Spinocerebellar Ataxia type 14 (SCA 14, sequence analysis of PRKCG gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the PRKCG gene.

More info about this panel
Portugal.

Hereditary ataxias (NGS panel for 44 genes) Panel

Portugal.

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 panel
Portugal.

Autosomal Dominant Retinitis Pigmentosa Sequencing Panel with CNV Detection Panel

United States.

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 panel
United States.

Retinitis Pigmentosa (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel

United States.

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 panel
United States.

Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel

United States.

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 panel
United States.

Mental retardation - different panels Panel

Germany.

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 panel
Germany.

Neurogenetic Disorders - panels Panel

Germany.

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 panel
Germany.

Ataxia (AD/AR) panel Panel

Netherlands.

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 panel
Netherlands.

Spinocerebellar ataxia type 14 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the PRKCG gene.

More info about this panel
Germany.

AllNeuro panel Panel

Germany.

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 panel
Germany.

Ataxia and differential diagnoses Panel Panel

Germany.

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 panel
Germany.

Single gene testing PRKCG Panel

Germany.

By CeGaT GmbH

This panel specifically test the PRKCG gene.

More info about this panel
Germany.

Ataxia, autosomal dominant and X-linked Panel Panel

Germany.

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 panel
Germany.

Autosomal Dominant Retinitis Pigmentosa Panel

Estonia.

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 panel
Estonia.

Spinocerebellar Ataxia Panel

Estonia.

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 panel
Estonia.

Spinocerebellar Ataxia 14 Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the PRKCG gene.

More info about this panel
Austria.

Spinocerebellar Ataxia 14 Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the PRKCG gene.

More info about this panel
Austria.

Spinocerebellar Ataxia 14 Panel

Slovakia.

By MedGene

This panel specifically test the PRKCG gene.

More info about this panel
Slovakia.

Spinocerebellar Ataxia 14 Panel

Slovakia.

By MedGene

This panel specifically test the PRKCG gene.

More info about this panel
Slovakia.

Spinocerebellar ataxia type 14 (SCA14): PRKCG gene sequence analysis (exon 4) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the PRKCG gene.

More info about this panel
Spain.

Spinocerebellar Ataxia type 14 (SCA14): PRKCG gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the PRKCG gene.

More info about this panel
Spain.

NOONAN, LEOPARD, COSTELLO and CARDIOFACIOCUTANEOUS SYNDROME Panel

Spain.

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 panel
Spain.

Spinocerebellar ataxia Panel

Spain.

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 panel
Spain.

Ataxia Panel

Spain.

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 panel
Spain.

Hereditary Neuropathies: Sequencing Panel Panel

United States.

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 panel
United States.

Hereditary Neuropathies: Deletion/Duplication Panel Panel

United States.

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 panel
United States.

PRKCG Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the PRKCG gene.

More info about this panel
United States.

Retinal Dystrophy Panel Panel

Finland.

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 panel
Finland.

Ataxia Panel Panel

Finland.

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 panel
Finland.

Retinitis Pigmentosa Panel Panel

Finland.

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 panel
Finland.

Spinocerebellar ataxia type 14 Panel

Spain.

By Bioarray

This panel specifically test the PRKCG gene.

More info about this panel
Spain.

Exome Panel

Brazil.

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 panel
Brazil.

SPINOCEREBELLAR ATAXIA (AUTOSOMAL DOMINANT) (SCAs) Panel

Spain.

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 panel
Spain.

SPINOCEREBELLAR ATAXIA NGS PANEL Panel

Spain.

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 panel
Spain.

Spinocerebellar ataxia panel Panel

Canada.

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 panel
Canada.

Spinocerebellar Ataxia Type 14, Sequencing PRKCG Gene (SCA14) Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the PRKCG gene.

More info about this panel
Spain.

Spinocerebellar Ataxia Type 14 , Sequencing Exon 4 PRKCG Gene (SCA14) Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the PRKCG gene.

More info about this panel
Spain.

Ataxia Related Disorders , Panel Massive Sequencing (NGS) 35 Genes Panel

Spain.

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 panel
Spain.

Spinocerebellar Ataxia Type 14: gene sequencing Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the PRKCG gene.

More info about this panel
Canada.

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like FDXR PDX1 AMER1 PITX1 CEP85L PAM16 SLC24A4