SEPSECS gene related symptoms and diseases
All the information presented here about the SEPSECS 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 SEPSECS gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Seizures | Common - Between 50% and 80% cases |
| Dyskinesia | Common - Between 50% and 80% cases |
| Microcephaly | Common - Between 50% and 80% cases |
| Chorea | Common - Between 50% and 80% cases |
| Progressive microcephaly | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with SEPSECS gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Dystonia
Not very common - Between 30% and 50% cases
- Cerebellar vermis atrophy
- Progressive spasticity
- Cerebral atrophy
- Clonus
- Postnatal microcephaly
- Intellectual disability, profound
- Spastic tetraplegia
And 17 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SEPSECS gene
Here you will find a list of rare diseases related to the SEPSECS. 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 2D; PCH2D
Alternate names
PONTOCEREBELLAR HYPOPLASIA, TYPE 2D; PCH2D Is also known as pcca, cerebellocerebral atrophy, progressive
Description
PCH2D is an autosomal recessive disorder characterized by progressive microcephaly, postnatal onset of progressive atrophy of the cerebrum and cerebellum, profound mental retardation, spasticity, and variable seizures (summary by Ben-Zeev et al., 2003).For a general phenotypic description and a discussion of genetic heterogeneity of pontocerebellar hypoplasia type 2, see PCH2A (OMIM ).
Most common symptoms of PONTOCEREBELLAR HYPOPLASIA, TYPE 2D; PCH2D
- Intellectual disability
- Seizures
- Global developmental delay
- Microcephaly
- Ataxia
More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 2D; PCH2D
SOURCES: OMIM
PROGRESSIVE CEREBELLO-CEREBRAL ATROPHY
Alternate names
PROGRESSIVE CEREBELLO-CEREBRAL ATROPHY Is also known as pcca
More info about PROGRESSIVE CEREBELLO-CEREBRAL ATROPHY
SOURCES: ORPHANET
Search interest in SEPSECS
Potential gene panels for SEPSECS gene
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.
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 SEPSECS Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the SEPSECS 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.
Brain Malformations / Neuronal Migration Disorders Panel
Germany.
By MGZ Medical Genetics Center Brain Malformations / Neuronal Migration Disorders that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A SGCE SGSH STIL SLC16A2
More info about this panel Germany.
Pontocerebellar hypoplasia type 2D Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the SEPSECS 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.
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.
SEPSECS - Gene sequencing Panel
Netherlands.
By Clinical Genetics Academic Medical Center
This panel specifically test the SEPSECS 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 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.
SEPSECS Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SEPSECS gene.
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.
Neuronal Migration Disorder Panel Panel
Finland.
By Blueprint Genetics Neuronal Migration Disorder Panel that also includes the following genes: MED12 TUBA8 TUBB2A TUBG1 VLDLR YWHAE ACTB NSDHL RXYLT1 RAB18
More info about this panel Finland.
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.
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