VRK1 gene related symptoms and diseases
All the information presented here about the VRK1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to VRK1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Uncommon - Between 30% and 50% cases |
| Brisk reflexes | Uncommon - Between 30% and 50% cases |
| Sensory neuropathy | Uncommon - Between 30% and 50% cases |
| Sleep disturbance | Uncommon - Between 30% and 50% cases |
| Decreased fetal movement | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with VRK1 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Limb ataxia
- Progressive microcephaly
- Fasciculations
- Poor suck
- Congenital contracture
- Spinal muscular atrophy
- EMG: neuropathic changes
- Abnormality of the foot
And 36 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to VRK1 gene
Here you will find a list of rare diseases related to the VRK1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
PONTOCEREBELLAR HYPOPLASIA TYPE 1
Alternate names
PONTOCEREBELLAR HYPOPLASIA TYPE 1 Is also known as pch1, norman disease, pontocerebellar hypoplasia with infantile spinal muscular atrophy, pontocerebellar hypoplasia with anterior horn cell disease
Description
Pontocerebellar hypoplasia type 1 (PCH1), also known as Norman's disease, is a clinically and genetically heterogeneous group of autosomal recessive disorders with a prenatal onset characterized by diffuse muscular atrophy secondary to pontocerebellar hypoplasia and spinal cord anterior horn cell degeneration resulting in early death.
Most common symptoms of PONTOCEREBELLAR HYPOPLASIA TYPE 1
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
More info about PONTOCEREBELLAR HYPOPLASIA TYPE 1
MICROCEPHALY-COMPLEX MOTOR AND SENSORY AXONAL NEUROPATHY SYNDROME
Description
Microcephaly-complex motor and sensory axonal neuropathy syndrome is an extremely rare subtype of hereditary motor and sensory neuropathy characterized by severe, rapidly-progressing, distal, symmetric polyneuropathy and microcephaly (which can be evident in utero) with intact cognition. Clinically it presents with delayed motor development, hypotonia, absent or reduced deep tendon reflexes, progressive muscle wasting and weakness and scoliosis.
More info about MICROCEPHALY-COMPLEX MOTOR AND SENSORY AXONAL NEUROPATHY SYNDROME
SOURCES: ORPHANET
Search interest in VRK1
Potential gene panels for VRK1 gene
Atypical Spinal Muscular Atrophy Advanced Sequencing Evaluation Panel
United States.
By Athena Diagnostics Inc Atypical Spinal Muscular Atrophy Advanced Sequencing Evaluation that also includes the following genes: UBA1 VRK1 BICD2 TRPV4 DYNC1H1 HSPB8 GARS HSPB1 HSPB3 IGHMBP2
More info about this panel United States.
Neuromuscular Disorders Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Neuromuscular Disorders Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG SLC25A4 SUCLA2
More info about this panel United States.
Comprehensive Brain Malformation Panel Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Comprehensive Brain Malformation Panel that also includes the following genes: SHH STIL SIX3 SLC9A6 SOX2 CDKL5 TGIF1 MED12 CEP41 TUBA8
More info about this panel United States.
Comprehensive Neuromuscular Panel Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Comprehensive Neuromuscular Panel that also includes the following genes: RYR1 RYR2 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG TCAP
More info about this panel United States.
Cerebellar/Pontocerebellar Hypoplasia Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Cerebellar/Pontocerebellar Hypoplasia Sequencing Panel that also includes the following genes: TUBA8 VLDLR VRK1 CASK TSEN34 CDK5 EXOSC3 TUBA1A TUBB3 RARS2
More info about this panel United States.
Cerebellar/Pontocerebellar Hypoplasia Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Cerebellar/Pontocerebellar Hypoplasia Deletion/Duplication Panel that also includes the following genes: TUBA8 VLDLR VRK1 CASK TSEN34 CDK5 EXOSC3 TUBA1A TUBB3 RARS2
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.
Comprehensive Brain Malformations Panel Panel
United States.
By GeneDx Comprehensive Brain Malformations Panel that also includes the following genes: CEP41 TUBA8 VLDLR VRK1 TMEM237 CASK TSEN34 ARFGEF2 NDE1 FKRP
More info about this panel United States.
Pontocerebellar hypoplasia type 1A (sequence analysis of VRK1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the VRK1 gene.
More info about this panel Portugal.
Microcephaly and pontocerebellar hypoplasia (NGS panel for 52 genes) Panel
Portugal.
By CGC Genetics Microcephaly and pontocerebellar hypoplasia (NGS panel for 52 genes) that also includes the following genes: STIL BUB1B TUBG1 VRK1 SLC25A19 NIN CASK TSEN34 ZNF335 PCNT
More info about this panel Portugal.
Spinal muscular atrophy (NGS panel for 21 genes) Panel
Portugal.
By CGC Genetics Spinal muscular atrophy (NGS panel for 21 genes) that also includes the following genes: SCO2 UBA1 VAPB VRK1 SLC5A7 CHCHD10 BSCL2 EXOSC8 BICD2 TRPV4
More info about this panel Portugal.
Pontocerebellar Hypoplasia via VRK1 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the VRK1 gene.
More info about this panel United States.
Pontocerebellar Hypoplasia Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Pontocerebellar Hypoplasia Sequencing Panel with CNV Detection that also includes the following genes: VRK1 TSEN34 TSEN15 CLP1 EXOSC3 RARS2 VPS53 TSEN54 TSEN2 SEPSECS
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.
Neuropathy Panel
Germany.
By MGZ Medical Genetics Center Neuropathy that also includes the following genes: SACS SCN10A SCN11A SCN9A SH3BP4 SLC12A6 SOD1 SPG11 ATL1 SPAST
More info about this panel Germany.
Pontocerebellar Hypoplasia Panel
Germany.
By MGZ Medical Genetics Center Pontocerebellar Hypoplasia that also includes the following genes: VLDLR VRK1 TSEN34 EXOSC3 RARS2 TSEN54 TSEN2 SEPSECS
More info about this panel Germany.
Pontocerebellar hypoplasia panel Panel
Germany.
By Centogene AG - the Rare Disease Company Pontocerebellar hypoplasia panel that also includes the following genes: VRK1 CASK TSEN34 EXOSC3 RARS2 TSEN54 TSEN2 OPHN1 CHMP1A
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.
Pontocerebellar hypoplasia type 1A Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the VRK1 gene.
More info about this panel Germany.
Microcephaly and Pontocerebellar Hypoplasia Panel Panel
Germany.
By CeGaT GmbH Microcephaly and Pontocerebellar Hypoplasia Panel that also includes the following genes: STIL BUB1B TUBG1 VRK1 SLC25A19 NIN CASK TSEN34 ZNF335 PCNT
More info about this panel Germany.
Microcephaly and Pontocerebellar Hypoplasia Panel Panel
Germany.
By CeGaT GmbH Microcephaly and Pontocerebellar Hypoplasia Panel that also includes the following genes: STIL BUB1B TUBG1 VRK1 SLC25A19 NIN CASK TSEN34 ZNF335 PCNT
More info about this panel Germany.
Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel Panel
Germany.
By CeGaT GmbH Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel that also includes the following genes: RTN2 SACS AIMP1 SLC16A2 SLC1A4 SLC25A15 SOD1 SOX10 SPG11 ATL1
More info about this panel Germany.
Spinal Muscular Atrophy Panel Panel
Germany.
By CeGaT GmbH Spinal Muscular Atrophy Panel that also includes the following genes: SCO2 UBA1 VAPB VRK1 SLC5A7 CHCHD10 BSCL2 EXOSC8 BICD2 EXOSC3
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.
Spinal Muscular Atrophy (SMA) Panel Panel
Germany.
By CeGaT GmbH Spinal Muscular Atrophy (SMA) Panel that also includes the following genes: SCO2 UBA1 VAPB VRK1 SLC5A7 CHCHD10 BSCL2 EXOSC8 BICD2 EXOSC3
More info about this panel Germany.
Single gene testing VRK1 Panel
Germany.
By CeGaT GmbH
This panel specifically test the VRK1 gene.
More info about this panel Germany.
VRK1 - Gene sequencing Panel
Netherlands.
By Clinical Genetics Academic Medical Center
This panel specifically test the VRK1 gene.
More info about this panel Netherlands.
Brain malformations Panel
Estonia.
By Asper Biogene Asper Biogene LLC Brain malformations that also includes the following genes: STIL SLC12A6 SNAP29 TCF4 CEP41 TUBB2A TUBG1 VLDLR VRK1 ACTB
More info about this panel Estonia.
Pontocerebellar hypoplasia type 1 Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the VRK1 gene.
More info about this panel Austria.
Pontocerebellar hypoplasia type 1 Panel
Slovakia.
By MedGene
This panel specifically test the VRK1 gene.
More info about this panel Slovakia.
Brain Malformations: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Brain Malformations: Sequencing Panel that also includes the following genes: CEP41 TUBA8 VLDLR VRK1 ACTB ACTG1 TMEM237 CASK TSEN34 ARFGEF2
More info about this panel United States.
Expanded Neuromuscular Disorders: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Expanded Neuromuscular Disorders: Sequencing Panel that also includes the following genes: RYR1 RYR2 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG TCAP
More info about this panel United States.
Neurology: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Neurology: Sequencing Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL SIX3
More info about this panel United States.
Brain Malformations: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Brain Malformations: Deletion/Duplication Panel that also includes the following genes: CEP41 TUBA8 VLDLR VRK1 ACTB ACTG1 TMEM237 CASK TSEN34 ARFGEF2
More info about this panel United States.
Expanded Neuromuscular Disorders: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Expanded Neuromuscular Disorders: Deletion/Duplication Panel that also includes the following genes: RYR1 RYR2 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG TCAP
More info about this panel United States.
Pontocerebellar Hypoplasia NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Pontocerebellar Hypoplasia NGS Panel that also includes the following genes: VRK1 CASK TSEN34 RARS2 TSEN54 TSEN2 SEPSECS OPHN1
More info about this panel United States.
Cerebellar Hypoplasia NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Cerebellar Hypoplasia NGS Panel that also includes the following genes: VRK1 CASK TSEN34 RARS2 TSEN54 TSEN2 SEPSECS OPHN1
More info about this panel United States.
Epilepsy NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Epilepsy NGS Panel that also includes the following genes: BCS1L SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B SCN5A
More info about this panel United States.
Microcephaly NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Microcephaly NGS Panel that also includes the following genes: MSMO1 STIL BUB1B VRK1 SLC25A19 CASK TSEN34 PCNT CENPJ NDE1
More info about this panel United States.
VRK1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the VRK1 gene.
More info about this panel United States.
Comprehensive Epilepsy NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Comprehensive Epilepsy NGS Panel that also includes the following genes: BCS1L RYR3 SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B
More info about this panel United States.
Microcephaly and Pontocerebellar Hypoplasia Panel Panel
Finland.
By Blueprint Genetics Microcephaly and Pontocerebellar Hypoplasia Panel that also includes the following genes: STIL PLK4 VRK1 XRCC4 GFM1 CASK PCNT TUBGCP4 STAMBP CENPJ
More info about this panel Finland.
Arthrogryposes Panel Panel
Finland.
By Blueprint Genetics Arthrogryposes Panel that also includes the following genes: BIN1 SCO2 TGFB3 TK2 TNNI2 TNNT1 TNNT3 TPM2 TPM3 VPS33B
More info about this panel Finland.
Spinal Muscular Atrophy Panel Panel
Finland.
By Blueprint Genetics Spinal Muscular Atrophy Panel that also includes the following genes: SCO2 SMN1 SMN2 TBCE UBA1 VAPB VRK1 SLC5A7 CHCHD10 BSCL2
More info about this panel Finland.
PONTOCEREBELLAR HYPOPLASIA TYPE 1 Panel
Spain.
By Laboratorio de Genetica Clinica SL PONTOCEREBELLAR HYPOPLASIA TYPE 1 that also includes the following genes: VRK1 EXOSC3 RARS2 TSEN54
More info about this panel Spain.
ATROPHY, SPINAL MUSCULAR SMN-NEGATIVE NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL ATROPHY, SPINAL MUSCULAR SMN-NEGATIVE NGS PANEL that also includes the following genes: SCO2 TBCE UBA1 VAPB VRK1 SLC5A7 CHCHD10 BSCL2 EXOSC8 BICD2
More info about this panel Spain.
PONTOCEREBELLAR HYPOPLASIA NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL PONTOCEREBELLAR HYPOPLASIA NGS PANEL that also includes the following genes: VLDLR VRK1 CASK TSEN34 EXOSC3 RARS2 TSEN54 TSEN2 SEPSECS AMPD2
More info about this panel Spain.
Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes Panel
Spain.
By Reference Laboratory Genetics Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes that also includes the following genes: RYR1 RYR2 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG TCAP
More info about this panel Spain.
Pontocerebellar Hypoplasia , Panel Massive Sequencing (NGS) 8 Genes Panel
Spain.
By Reference Laboratory Genetics Pontocerebellar Hypoplasia , Panel Massive Sequencing (NGS) 8 Genes that also includes the following genes: VRK1 CASK TSEN34 EXOSC3 RARS2 TSEN54 TSEN2 OPHN1
More info about this panel Spain.
Spinal Muscular Atrophy and related Disorders , Panel Massive Sequencing (NGS) 19 Genes Panel
Spain.
By Reference Laboratory Genetics Spinal Muscular Atrophy and related Disorders , Panel Massive Sequencing (NGS) 19 Genes that also includes the following genes: SCO2 SMN1 SMN2 UBA1 VAPB VRK1 SLC5A7 BSCL2 TRPV4 REEP1
More info about this panel Spain.
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