RNASEH2A gene related symptoms and diseases
All the information presented here about the RNASEH2A gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to RNASEH2A gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Seizures | Very Common - Between 80% and 100% cases |
| Leukodystrophy | Very Common - Between 80% and 100% cases |
| Hypertonia | Very Common - Between 80% and 100% cases |
| Feeding difficulties | Very Common - Between 80% and 100% cases |
| CSF lymphocytic pleiocytosis | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with RNASEH2A gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Anemia
- Spasticity
- Cerebral calcification
- Growth delay
- Microcephaly
- Generalized hypotonia
- Global developmental delay
- Thrombocytopenia
And 63 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to RNASEH2A gene
Here you will find a list of rare diseases related to the RNASEH2A. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
AICARDI-GOUTIÈRES SYNDROME
Alternate names
AICARDI-GOUTIÈRES SYNDROME Is also known as encephalopathy with basal ganglia calcification, encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid
Description
Aicardi-Goutières syndrome (AGS) is an inherited, subacute encephalopathy characterised by the association of basal ganglia calcification, leukodystrophy and cerebrospinal fluid (CSF) lymphocytosis.
Most common symptoms of AICARDI-GOUTIÈRES SYNDROME
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
More info about AICARDI-GOUTIÈRES SYNDROME
AICARDI-GOUTIERES SYNDROME 4; AGS4
Most common symptoms of AICARDI-GOUTIERES SYNDROME 4; AGS4
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
- Microcephaly
More info about AICARDI-GOUTIERES SYNDROME 4; AGS4
Search interest in RNASEH2A
Potential gene panels for RNASEH2A gene
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.
Epilepsy Advanced Sequencing and CNV Evaluation-Epileptic Encephalopathy Panel
United States.
By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation-Epileptic Encephalopathy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A ST3GAL5 SLC2A1 SLC35A2 SLC9A6 SIK1
More info about this panel United States.
Aicardi-Goutieres Syndrome 4 - RNASEH2A Sequencing Panel
United States.
By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado
This panel specifically test the RNASEH2A gene.
More info about this panel United States.
Aicardi-Goutieres Syndrome 4 - RNASEH2A Del/Dup Analysis Panel
United States.
By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado
This panel specifically test the RNASEH2A gene.
More info about this panel United States.
Dystonia Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Dystonia that also includes the following genes: SCP2 SGCE SLC20A2 SLC2A1 SLC6A3 SPR SUCLA2 SUOX TAF1 TH
More info about this panel United States.
Movement Disorders Panel Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Movement Disorders Panel that also includes the following genes: SCP2 SGCE SLC20A2 SLC2A1 SLC6A3 SNCA SPR SQSTM1 SUCLA2 SUOX
More info about this panel United States.
Dystonia Exome Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Dystonia Exome Panel that also includes the following genes: BCS1L SCN8A SCP2 SDHA SGCE SLC16A2 SLC20A2 SLC2A1 SLC6A3 SLC6A8
More info about this panel United States.
RNASEH2A Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the RNASEH2A gene.
More info about this panel Germany.
RNASEH2A. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the RNASEH2A gene.
More info about this panel Spain.
Aicardi-Goutieres syndrome (NGS panel for 7 genes) Panel
Portugal.
By CGC Genetics Aicardi-Goutieres syndrome (NGS panel for 7 genes) that also includes the following genes: TREX1 SAMHD1 RNASEH2A IFIH1 ADAR RNASEH2C RNASEH2B
More info about this panel Portugal.
Aicardi-Goutieres syndrome 4 (sequence analysis of RNASEH2A gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the RNASEH2A gene.
More info about this panel Portugal.
Epileptic encephalopathy (NGS panel for 67 genes) Panel
Portugal.
By CGC Genetics Epileptic encephalopathy (NGS panel for 67 genes) that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A ST3GAL3 SLC2A1 SLC9A6 SPTAN1 CDKL5
More info about this panel Portugal.
Aicardi-Goutières Syndrome Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Aicardi-Goutières Syndrome Sequencing Panel with CNV Detection that also includes the following genes: TREX1 SAMHD1 RNASEH2A IFIH1 ADAR RNASEH2C RNASEH2B
More info about this panel United States.
Aicardi-Goutières Syndrome 4 via RNASEH2A Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the RNASEH2A 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.
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.
Aicardi-Goutières Syndrome Panel
Germany.
By MGZ Medical Genetics Center Aicardi-Goutières Syndrome that also includes the following genes: TREX1 SAMHD1 RNASEH2A ADAR RNASEH2C RNASEH2B
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.
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.
Epileptic syndromes with epilepsy and intellectual disability panel Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht Epileptic syndromes with epilepsy and intellectual disability panel that also includes the following genes: SLC6A8 SLC9A6 SMC1A KDM5C SMS CDKL5 STXBP1 SYNGAP1 SYP TCF4
More info about this panel Netherlands.
Aicardi-Goutieres syndrome type 4 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the RNASEH2A 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.
Aicardi-Goutieres syndrome panel Panel
Germany.
By Centogene AG - the Rare Disease Company Aicardi-Goutieres syndrome panel that also includes the following genes: TREX1 SAMHD1 RNASEH2A RNASEH2C RNASEH2B
More info about this panel Germany.
Aicardi-Goutieres Syndrome NGS Panel Panel
United States.
By MNG Laboratories (Medical Neurogenetics, LLC.) Aicardi-Goutieres Syndrome NGS Panel that also includes the following genes: TREX1 SAMHD1 RNASEH2A IFIH1 ADAR RNASEH2C RNASEH2B
More info about this panel United States.
Epileptic Encephalopathy Panel Panel
Germany.
By CeGaT GmbH Epileptic Encephalopathy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A ST3GAL3 ST3GAL5 SLC2A1 SLC35A2 SLC9A6 SPTAN1
More info about this panel Germany.
Aicardi-Goutières Syndrome Panel Panel
Germany.
By CeGaT GmbH Aicardi-Goutières Syndrome Panel that also includes the following genes: TREX1 SAMHD1 RNASEH2A ADAR RNASEH2C RNASEH2B
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.
Basal ganglia calcification Panel Panel
Germany.
By CeGaT GmbH Basal ganglia calcification Panel that also includes the following genes: SLC20A2 BRAF TBCE TREX1 TYROBP XPR1 CA2 PANK2 SAMHD1 TREM2
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.
Syndromes with immunodeficiency Panel Panel
Germany.
By CeGaT GmbH Syndromes with immunodeficiency Panel that also includes the following genes: RMRP RUNX2 BLM SMARCAL1 STAT3 TBX1 TERC TERT TINF2 TREX1
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.
Invitae Monogenic Autoimmunity Panel Panel
United States.
By Invitae Invitae Monogenic Autoimmunity Panel that also includes the following genes: RMRP SH2D1A SLC7A7 BTK STAT1 STAT3 STAT5B STIM1 STX11 STXBP2
More info about this panel United States.
Invitae Primary Immunodeficiency Panel Panel
United States.
By Invitae Invitae Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC SEMA3E SH2D1A SH3BP2 SLC7A7 SMARCAL1 BTK STAT1 STAT2
More info about this panel United States.
Aicardi-Goutieres syndrome type 4: RNASEH2A gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the RNASEH2A gene.
More info about this panel Spain.
Aicardi-Goutieres syndrome Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Aicardi-Goutieres syndrome that also includes the following genes: TREX1 SAMHD1 RNASEH2A ADAR RNASEH2C RNASEH2B
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.
RNASEH2A - Gene sequencing Panel
Netherlands.
By Genome Diagnostics VU University Medical Center
This panel specifically test the RNASEH2A gene.
More info about this panel Netherlands.
Dystonia: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Dystonia: Sequencing Panel that also includes the following genes: SCP2 SGCE SLC20A2 SLC2A1 SLC6A3 SPR SUCLA2 SUOX TAF1 TH
More info about this panel United States.
Aicardi-Goutieres Syndrome NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Aicardi-Goutieres Syndrome NGS Panel that also includes the following genes: TREX1 SAMHD1 RNASEH2A RNASEH2C RNASEH2B
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.
RNASEH2A Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the RNASEH2A gene.
More info about this panel United States.
Essential Epilepsy NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Essential Epilepsy NGS Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A ST3GAL3 ST3GAL5 SLC2A1 SLC35A2 SLC9A6
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.
Primary Immunodeficiency Panel Panel
Finland.
By Blueprint Genetics Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC CFB BLM SH2D1A SLC7A7 SMARCAL1 SMARCD2 SRP72 BTK
More info about this panel Finland.
Aicardi-Goutières Syndrome Panel Panel
Finland.
By Blueprint Genetics Aicardi-Goutières Syndrome Panel that also includes the following genes: TREX1 SAMHD1 RNASEH2A IFIH1 ADAR RNASEH2C RNASEH2B
More info about this panel Finland.
Autoinflammatory Syndrome Panel Panel
Finland.
By Blueprint Genetics Autoinflammatory Syndrome Panel that also includes the following genes: TNFAIP3 TNFRSF1A TREX1 ACP5 NLRP1 LPIN2 IL36RN SAMHD1 NLRP3 NLRC4
More info about this panel Finland.
Comprehensive Metabolism Panel Panel
Finland.
By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3
More info about this panel Finland.
Epileptic Encephalopathy Panel Panel
Finland.
By Blueprint Genetics Epileptic Encephalopathy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCO1 ST3GAL3 ST3GAL5 SLC25A1 SLC2A1 SLC35A2
More info about this panel Finland.
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.
Aicardi-Goutieres syndrome type 4 Panel
Spain.
By Bioarray
This panel specifically test the RNASEH2A gene.
More info about this panel Spain.
Aicardi-Goutieres Syndromes NGS Panel and Deletion/Duplication Analysis Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Aicardi-Goutieres Syndromes NGS Panel and Deletion/Duplication Analysis that also includes the following genes: TREX1 SAMHD1 RNASEH2A IFIH1 ADAR RNASEH2C RNASEH2B
More info about this panel United States.
RNASEH2A Gene Sequencing and Deletion/Duplication Analysis Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the RNASEH2A gene.
More info about this panel United States.
AICARDI-GOUTIERES SYNDROME Panel
Spain.
By Laboratorio de Genetica Clinica SL AICARDI-GOUTIERES SYNDROME that also includes the following genes: TREX1 SAMHD1 RNASEH2A IFIH1 ADAR RNASEH2C RNASEH2B
More info about this panel Spain.
AICARDI-GOUTIERES SYNDROME NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL AICARDI-GOUTIERES SYNDROME NGS PANEL that also includes the following genes: TREX1 SAMHD1 RNASEH2A IFIH1 ADAR RNASEH2C
More info about this panel Spain.
Aicardi-Goutieres Type 4 Syndrome, Sequencing RNASEH2A Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the RNASEH2A 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.
Aicardi-Goutieres Syndrome, Panel Massive Sequencing 7 Genes Panel
Spain.
By Reference Laboratory Genetics Aicardi-Goutieres Syndrome, Panel Massive Sequencing 7 Genes that also includes the following genes: TREX1 SAMHD1 RNASEH2A IFIH1 ADAR RNASEH2C RNASEH2B
More info about this panel Spain.
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