TSEN54 gene related symptoms and diseases
All the information presented here about the TSEN54 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to TSEN54 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Seizures | Very Common - Between 80% and 100% cases |
| Microcephaly | Very Common - Between 80% and 100% cases |
| Cerebellar hypoplasia | Very Common - Between 80% and 100% cases |
| Hypoplasia of the pons | Common - Between 50% and 80% cases |
| Hypertonia | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with TSEN54 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Dyskinesia
- Progressive microcephaly
- Visual impairment
- Flexion contracture
- Polyhydramnios
Not very common - Between 30% and 50% cases
- Cerebellar hemisphere hypoplasia
- Extrapyramidal dyskinesia
- Cerebellar vermis hypoplasia
And 64 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to TSEN54 gene
Here you will find a list of rare diseases related to the TSEN54. 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
PONTOCEREBELLAR HYPOPLASIA TYPE 2
Alternate names
PONTOCEREBELLAR HYPOPLASIA TYPE 2 Is also known as pch2
Description
Pontocerebellar hypoplasia type 2 (PCH2) is the most common subtype of pontocerebellar hypoplasia (see this term) characterized by neonatal onset and a lack of voluntary motor development and later progressive microencephaly, generalized clonus, development of chorea and spasticity. The majority of patients will not reach puberty.
Most common symptoms of PONTOCEREBELLAR HYPOPLASIA TYPE 2
- Seizures
- Microcephaly
- Visual impairment
- Dystonia
- Cerebellar hypoplasia
More info about PONTOCEREBELLAR HYPOPLASIA TYPE 2
PONTOCEREBELLAR HYPOPLASIA, TYPE 2A; PCH2A
Alternate names
PONTOCEREBELLAR HYPOPLASIA, TYPE 2A; PCH2A Is also known as pch2, volendam neurodegenerative disease, pontocerebellar hypoplasia with progressive cerebral atrophy
Description
Pontocerebellar hypoplasia (PCH) represents a heterogeneous group of disorders characterized by an abnormally small cerebellum and brainstem. PCH type 2 is characterized by progressive microcephaly from birth combined with extrapyramidal dyskinesia and chorea, epilepsy, and normal spinal cord findings (Barth, 1993).For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 (OMIM ).
Most common symptoms of PONTOCEREBELLAR HYPOPLASIA, TYPE 2A; PCH2A
- Seizures
- Microcephaly
- Failure to thrive
- Flexion contracture
- Feeding difficulties
More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 2A; PCH2A
SOURCES: OMIM
PONTOCEREBELLAR HYPOPLASIA TYPE 4
Alternate names
PONTOCEREBELLAR HYPOPLASIA TYPE 4 Is also known as fatal infantile encephalopathy with olivopontocerebellar hypoplasia, olivopontocerebellar hypoplasia, encephalopathy, fatal infantile, with olivopontocerebellar hypoplasia, pch4
Description
Pontocerebellar hypoplasia type 4 (PCH4) is a very rare form of PCH (see this term), characterized by prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death.
Most common symptoms of PONTOCEREBELLAR HYPOPLASIA TYPE 4
- Seizures
- Microcephaly
- Spasticity
- Flexion contracture
- Cerebellar atrophy
More info about PONTOCEREBELLAR HYPOPLASIA TYPE 4
PONTOCEREBELLAR HYPOPLASIA TYPE 5
Alternate names
PONTOCEREBELLAR HYPOPLASIA TYPE 5 Is also known as olivopontocerebellar hypoplasia, fetal-onset, fetal-onset olivopontocerebellar hypoplasia, pch5
Description
Pontocerebellar hypoplasia type 5 (PCH5) is a very rare severe form of PCH (see this terme) with prenatal onset and characterized by fetal onset of clonus or seizures-like activity persisting in infancy and microencephaly leading to early postnatal death. There is significant overlap both in phenotype and in genotype between pontocerebellar hypoplasia types 4 and 5.
Most common symptoms of PONTOCEREBELLAR HYPOPLASIA TYPE 5
- Seizures
- Global developmental delay
- Microcephaly
- Cerebellar hypoplasia
- Spontaneous abortion
More info about PONTOCEREBELLAR HYPOPLASIA TYPE 5
Search interest in TSEN54
Potential gene panels for TSEN54 gene
Epilepsy Advanced Sequencing and CNV Evaluation - Developmental Brain Malformations Panel
United States.
By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation - Developmental Brain Malformations that also includes the following genes: SHH STIL SIX3 TUBA8 SLC25A19 DEAF1 ARFGEF2 RAB3GAP1 CENPJ NDE1
More info about this panel United States.
Epilepsy Advanced Sequencing and CNV Evaluation Panel
United States.
By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SHH ST3GAL3 ST3GAL5
More info about this panel United States.
NGS Epilepsy/Seizure Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Epilepsy/Seizure Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN5A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL
More info about this panel United States.
NGS Rhabdomyolysis and Metabolic Myopathies Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Rhabdomyolysis and Metabolic Myopathies Panel that also includes the following genes: RYR1 SCN4A SLC16A1 SUCLA2 TWNK TK2 TSFM LPIN1 SLC25A20 CASQ1
More info about this panel United States.
NGS Rhabdomyolysis and Metabolic Myopathies Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Rhabdomyolysis and Metabolic Myopathies Panel that also includes the following genes: RYR1 SCN4A SLC16A1 SUCLA2 TWNK TK2 TSFM LPIN1 SLC25A20 CASQ1
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.
Epilepsy/Seizure Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Epilepsy/Seizure that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SLC2A1 SLC6A8 SLC9A6 BTD SPTAN1
More info about this panel United States.
TSEN54 sequencing Panel
United States.
By Genetic Services Laboratory University of Chicago
This panel specifically test the TSEN54 gene.
More info about this panel United States.
TSEN54 deletion/duplication analysis Panel
United States.
By Genetic Services Laboratory University of Chicago
This panel specifically test the TSEN54 gene.
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.
Microcephaly Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Microcephaly Sequencing Panel that also includes the following genes: STIL SLC2A1 SLC9A6 PLK4 CDKL5 TCF4 UBE3A WWOX RAB18 CRIPT
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.
Microcephaly Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Microcephaly Deletion/Duplication Panel that also includes the following genes: STIL SLC1A4 SLC2A1 SLC9A6 SOX11 PLK4 CDKL5 TCF4 UBE3A USP18
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.
TSEN54. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the TSEN54 gene.
More info about this panel Spain.
TSEN54. Detection of the mutation c.919G>Tby sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the TSEN54 gene.
More info about this panel Spain.
Pontocerebellar hypoplasia type 2A (sequence analysis of TSEN54 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the TSEN54 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.
Pontocerebellar Hypoplasia via TSEN54 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the TSEN54 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.
Pontocerebellar Hypoplasia Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Pontocerebellar Hypoplasia that also includes the following genes: CASK TSEN34 RARS2 TSEN54 TSEN2 SEPSECS
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.
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 2A Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the TSEN54 gene.
More info about this panel Germany.
Pontocerebellar hypoplasia type 4 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the TSEN54 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.
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 TSEN54 Panel
Germany.
By CeGaT GmbH
This panel specifically test the TSEN54 gene.
More info about this panel Germany.
TSEN54 - Gene sequencing Panel
Netherlands.
By Clinical Genetics Academic Medical Center
This panel specifically test the TSEN54 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.
Epilepsy and Seizure Disorders: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Epilepsy and Seizure Disorders: Sequencing Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL
More info about this panel United States.
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.
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.
Epilepsy and Seizure Disorders: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Epilepsy and Seizure Disorders: Deletion/Duplication Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL
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.
TSEN54 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the TSEN54 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.
Pontocerebellar hypoplasia type 2A Panel
Spain.
By Bioarray
This panel specifically test the TSEN54 gene.
More info about this panel Spain.
Pontocerebellar hypoplasia type 2 Panel
Spain.
By Bioarray
This panel specifically test the TSEN54 gene.
More info about this panel Spain.
Pontocerebellar hypoplasia type 4 Panel
Spain.
By Bioarray
This panel specifically test the TSEN54 gene.
More info about this panel Spain.
PONTOCEREBELLAR HYPOPLASIA TYPE 2 Panel
Spain.
By Laboratorio de Genetica Clinica SL PONTOCEREBELLAR HYPOPLASIA TYPE 2 that also includes the following genes: TSEN34 TSEN54 TSEN2
More info about this panel Spain.
PONTOCEREBELLAR HYPOPLASIA TYPE 4/5 Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the TSEN54 gene.
More info about this panel Spain.
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.
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.
Microcephaly with Pontocerebellar Hypoplasia Type 2 , Sequencing TSEN54 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the TSEN54 gene.
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.
TSEN54-Related Pontocerebellar Hypoplasia: gene sequencing Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the TSEN54 gene.
More info about this panel Canada.
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