EIF2B2 gene related symptoms and diseases
All the information presented here about the EIF2B2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to EIF2B2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Seizures | Rare - less than 30% cases |
| Personality changes | Rare - less than 30% cases |
| Primary amenorrhea | Rare - less than 30% cases |
| Hemiparesis | Rare - less than 30% cases |
| Progressive neurologic deterioration | Rare - less than 30% cases |
Other less frequent symptoms and clinical features
Patients with EIF2B2 gene alterations may also develop some of the following symptoms and phenotypes:Rarely - Less than 30% cases
- Spastic gait
- Leukodystrophy
- Muscle stiffness
- Paraparesis
- Spastic paraparesis
- Leukoencephalopathy
- CNS hypomyelination
- Encephalitis
And 47 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to EIF2B2 gene
Here you will find a list of rare diseases related to the EIF2B2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
CREE LEUKOENCEPHALOPATHY
OVARIOLEUKODYSTROPHY
LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM
Alternate names
LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM Is also known as cach, cle, childhood ataxia with central nervous system hypomyelinization, cree leukoencephalopathy, vanishing white matter leukodystrophy
Description
Vanishing white matter leukodystrophy is an autosomal recessive neurologic disorder characterized by variable neurologic features, including progressive cerebellar ataxia, spasticity, and cognitive impairment associated with white matter lesions on brain imaging. The age at onset can range from early infancy to adulthood. Rapid neurologic deterioration can occur following minor head trauma. Female mutation carriers may develop ovarian failure, manifest as primary amenorrhea or as secondary amenorrhea lasting more than 6 months, associated with elevated gonadotropin levels at age less than 40 years (summary by Van der Knaap et al., 1998 and Schiffmann et al., 1997).
Most common symptoms of LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM
- Seizures
- Generalized hypotonia
- Ataxia
- Muscle weakness
- Muscular hypotonia
More info about LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM
CONGENITAL OR EARLY INFANTILE CACH SYNDROME
LATE INFANTILE CACH SYNDROME
JUVENILE OR ADULT CACH SYNDROME
Search interest in EIF2B2
Potential gene panels for EIF2B2 gene
EIF2B2 DNA Sequencing Test Panel
United States.
By Athena Diagnostics Inc
This panel specifically test the EIF2B2 gene.
More info about this panel United States.
Leukoencephalopathy with Vanishing White Matter Evaluation Panel
United States.
By Athena Diagnostics Inc Leukoencephalopathy with Vanishing White Matter Evaluation that also includes the following genes: EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5
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.
EIF2B2. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the EIF2B2 gene.
More info about this panel Spain.
EIF2B2-Related Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter Panel
Netherlands.
By Center for Childhood White Matter Disorders Vrije Universiteit Medical Center
This panel specifically test the EIF2B2 gene.
More info about this panel Netherlands.
Leukoencephalopathy with vanishing white matter (sequence analysis of EIF2B2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the EIF2B2 gene.
More info about this panel Portugal.
Leukoencephalopathy with vanishing white matter (NGS panel for 5 genes) Panel
Portugal.
By CGC Genetics Leukoencephalopathy with vanishing white matter (NGS panel for 5 genes) that also includes the following genes: EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5
More info about this panel Portugal.
Leukoencephalopathy with Vanishing White Matter and Ovarioleukodystrophy Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Leukoencephalopathy with Vanishing White Matter and Ovarioleukodystrophy Sequencing Panel with CNV Detection that also includes the following genes: EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5
More info about this panel United States.
Leukoencephalopathy with Vanishing White Matter and Ovarioleukodystrophy via EIF2B2 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the EIF2B2 gene.
More info about this panel United States.
Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection that also includes the following genes: SCP2 AIMP1 SDHB SLC16A2 SLC17A5 SLC25A1 SLC25A12 SLC25A4 SOX10 SPG11
More info about this panel United States.
Female Infertility Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Female Infertility Sequencing Panel with CNV Detection that also includes the following genes: BMP15 SEMA3A SEMA3E FOXL2 SOX10 SOX2 SOX3 SOX9 SRA1 SRD5A2
More info about this panel United States.
Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A SEMA3E BMP7 FOXL2 BRDT SOS1
More info about this panel United States.
Premature Ovarian Failure (POF) Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Premature Ovarian Failure (POF) Sequencing Panel with CNV Detection that also includes the following genes: BMP15 FOXL2 STAG3 MCM8 PSMC3IP HFM1 CLPP MCM9 NOBOX FIGLA
More info about this panel United States.
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.
Leukoencephalopathy with vanishing white matter Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the EIF2B2 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.
Leukodystrophy / Leukencephalopathy Panel Panel
Germany.
By CeGaT GmbH Leukodystrophy / Leukencephalopathy Panel that also includes the following genes: AIMP1 SOX10 TREX1 SAMHD1 MLC1 GJC2 RNASEH2A CLCN2 SUMF1 L2HGDH
More info about this panel Germany.
Leukodystrophy and Leukoencephalopathy Panel Panel
Germany.
By CeGaT GmbH Leukodystrophy and Leukoencephalopathy Panel that also includes the following genes: AIMP1 SOX10 TREX1 SAMHD1 MLC1 GJC2 RNASEH2A CLCN2 SUMF1 L2HGDH
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.
Leukodystrophy / Leukencephalopathy and differential diagnoses Panel Panel
Germany.
By CeGaT GmbH Leukodystrophy / Leukencephalopathy and differential diagnoses Panel that also includes the following genes: BCS1L SCO2 SCP2 AIMP1 SDHA SLC16A2 SLC17A5 SLC25A1 SLC25A12 SOX10
More info about this panel Germany.
Leukodystrophy / Leukoencephalopathy Panel Panel
Germany.
By CeGaT GmbH Leukodystrophy / Leukoencephalopathy Panel that also includes the following genes: SCP2 AIMP1 SLC16A2 SLC17A5 SOX10 ACOX1 TREX1 TYROBP VPS11 SAMHD1
More info about this panel Germany.
Leukodystrophy and Leukoencephalopathy Panel
Estonia.
By Asper Biogene Asper Biogene LLC Leukodystrophy and Leukoencephalopathy that also includes the following genes: SCP2 AIMP1 SOX10 TREX1 SAMHD1 MLC1 GJC2 RNASEH2A CLCN2 SUMF1
More info about this panel Estonia.
Leukoencephalopathy with vanishing white matter: EIF2B2 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the EIF2B2 gene.
More info about this panel Spain.
Leukodistrophy Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Leukodistrophy that also includes the following genes: SCP2 AIMP1 SDHA SLC16A2 SOX10 TREX1 TYROBP BEST1 SAMHD1 MLC1
More info about this panel Spain.
Leukoencephalopathy with vanishing white matter Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Leukoencephalopathy with vanishing white matter that also includes the following genes: EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5
More info about this panel Spain.
Childhood Ataxia with Central Nervous System Hypomyelination: EIF2B2 Gene Sequencing Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the EIF2B2 gene.
More info about this panel United States.
Childhood Ataxia with Central Nervous System Hypomyelination: EIF2B2 Gene Deletion/Duplication Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the EIF2B2 gene.
More info about this panel United States.
Childhood Ataxia with Central Nervous System Hypomyelination: EIF2B1-EIF2B5 Gene Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Childhood Ataxia with Central Nervous System Hypomyelination: EIF2B1-EIF2B5 Gene Sequencing Panel that also includes the following genes: EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5
More info about this panel United States.
Childhood Ataxia with Central Nervous System Hypomyelination: EIF2B1-EIF2B5 Gene Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Childhood Ataxia with Central Nervous System Hypomyelination: EIF2B1-EIF2B5 Gene Deletion/Duplication Panel that also includes the following genes: EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5
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.
Leukoencephalopathy NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Leukoencephalopathy NGS Panel that also includes the following genes: SCP2 SLC25A12 ACOX1 MLC1 GJC2 ABAT CSF1R FAM126A DARS2 HEPACAM
More info about this panel United States.
EIF2B2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the EIF2B2 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.
Leukodystrophy and Leukoencephalopathy Panel Panel
Finland.
By Blueprint Genetics Leukodystrophy and Leukoencephalopathy Panel that also includes the following genes: SCO1 AIMP1 SOX10 TREX1 GFM1 NDUFAF5 SAMHD1 NFU1 MRPL44 MLC1
More info about this panel Finland.
Comprehensive Epilepsy Panel Panel
Finland.
By Blueprint Genetics Comprehensive Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SCO1 AIMP1 ST3GAL3 ST3GAL5 SLC25A1
More info about this panel Finland.
Leukoencephalopathy with vanishing white matter Panel
Spain.
By Bioarray
This panel specifically test the EIF2B2 gene.
More info about this panel Spain.
LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER (CACH SYNDROME) Panel
Spain.
By Laboratorio de Genetica Clinica SL LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER (CACH SYNDROME) that also includes the following genes: EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5
More info about this panel Spain.
LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER NGS PANEL that also includes the following genes: EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5
More info about this panel Spain.
Leukoencephalopathy with Vanishing White Matter, Sequencing EIF2B2 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the EIF2B2 gene.
More info about this panel Spain.
Leukodystrophies , Panel Massive Sequencing (NGS) 57 genes Panel
Spain.
By Reference Laboratory Genetics Leukodystrophies , Panel Massive Sequencing (NGS) 57 genes that also includes the following genes: AIMP1 SDHA SLC16A2 SOX10 TREX1 TYROBP BEST1 SAMHD1 MLC1 GJC2
More info about this panel Spain.
Leukoencephalopathy with Vanishing White Matter , Panel Massive Sequencing (NGS) EIF2B1, EIF2B2,EIF2B3, EIF2B4, EIF2B5 Genes Panel
Spain.
By Reference Laboratory Genetics Leukoencephalopathy with Vanishing White Matter , Panel Massive Sequencing (NGS) EIF2B1, EIF2B2,EIF2B3, EIF2B4, EIF2B5 Genes that also includes the following genes: EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5
More info about this panel Spain.
Premature Ovarian Failure: Sequencing Panel and FMR1 CGG Repeat Analysis Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Premature Ovarian Failure: Sequencing Panel and FMR1 CGG Repeat Analysis that also includes the following genes: BMP15 FOXL2 POF1B PSMC3IP HFM1 NOBOX FIGLA CYP17A1 CYP19A1 DIAPH2
More info about this panel Canada.
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