RNASET2 gene related symptoms and diseases
All the information presented here about the RNASET2 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 RNASET2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Encephalopathy | Very Common - Between 80% and 100% cases |
| Doll-like facies | Very Common - Between 80% and 100% cases |
| Focal white matter lesions | Very Common - Between 80% and 100% cases |
| Abnormal CNS myelination | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with RNASET2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Abnormal myelination
- Athetosis
- Leukoencephalopathy
- Cerebral calcification
- Poor speech
- Abnormality of the cerebral white matter
- Severe global developmental delay
- Dystonia
And 13 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to RNASET2 gene
Here you will find a list of rare diseases related to the RNASET2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
CYSTIC LEUKOENCEPHALOPATHY WITHOUT MEGALENCEPHALY
Alternate names
CYSTIC LEUKOENCEPHALOPATHY WITHOUT MEGALENCEPHALY Is also known as clwm
Description
Cystic leukoencephalopathy without megalencephaly is characterised by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. Less than 50 patients have been described in the literature so far. Inheritance is most likely autosomal recessive.
Most common symptoms of CYSTIC LEUKOENCEPHALOPATHY WITHOUT MEGALENCEPHALY
- Intellectual disability
- Seizures
- Global developmental delay
- Hearing impairment
- Microcephaly
More info about CYSTIC LEUKOENCEPHALOPATHY WITHOUT MEGALENCEPHALY
Search interest in RNASET2
Potential gene panels for RNASET2 gene
Cystic Leukoencephalopathy - RNASET2 Sequencing Panel
United States.
By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado
This panel specifically test the RNASET2 gene.
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.
Leukoencephalopathy cystic without megalencephaly (sequence analysis of RNASET2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the RNASET2 gene.
More info about this panel Portugal.
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.
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.
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, cystic, without megalencephaly Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the RNASET2 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.
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.
Single gene testing RNASET2 Panel
Germany.
By CeGaT GmbH
This panel specifically test the RNASET2 gene.
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.
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.
RNASET2 - Gene sequencing Panel
Netherlands.
By Genome Diagnostics VU University Medical Center
This panel specifically test the RNASET2 gene.
More info about this panel Netherlands.
RNASET2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the RNASET2 gene.
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.
Cystic Leukoencephalopathy without Megalencephaly , Sequencing RNASET2 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the RNASET2 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.
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