TSEN34 gene related symptoms and diseases
All the information presented here about the TSEN34 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to TSEN34 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Seizures | Very Common - Between 80% and 100% cases |
| Cerebellar vermis hypoplasia | Very Common - Between 80% and 100% cases |
| Microcephaly | Very Common - Between 80% and 100% cases |
| Extrapyramidal dyskinesia | Very Common - Between 80% and 100% cases |
| Progressive microcephaly | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with TSEN34 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Cerebellar hemisphere hypoplasia
- Chorea
- Dyskinesia
- Cerebellar hypoplasia
- Dystonia
- Visual impairment
Not very common - Between 30% and 50% cases
- Severe global developmental delay
- Hypoplasia of the pons
And 20 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to TSEN34 gene
Here you will find a list of rare diseases related to the TSEN34. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
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
Search interest in TSEN34
Potential gene panels for TSEN34 gene
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.
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.
TSEN34 sequencing Panel
United States.
By Genetic Services Laboratory University of Chicago
This panel specifically test the TSEN34 gene.
More info about this panel United States.
Tier 2 PCH Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Tier 2 PCH Panel that also includes the following genes: TSEN34 TSEN2
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.
Pontocerebellar hypoplasia type 2C (sequence analysis of TSEN34 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the TSEN34 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 TSEN34 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the TSEN34 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.
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 2C Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the TSEN34 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.
TSEN34 - Gene sequencing Panel
Netherlands.
By Clinical Genetics Academic Medical Center
This panel specifically test the TSEN34 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.
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.
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.
TSEN34 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the TSEN34 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.
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 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.
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.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SLC12A2 DNAJC6 CYP11B1 SLITRK1 LMNA MYH11 SLC5A7