SLC19A2 gene related symptoms and diseases
All the information presented here about the SLC19A2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SLC19A2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Seizures | Very Common - Between 80% and 100% cases |
| Aminoaciduria | Very Common - Between 80% and 100% cases |
| Polyneuropathy | Very Common - Between 80% and 100% cases |
| Neutropenia | Very Common - Between 80% and 100% cases |
| Aciduria | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with SLC19A2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Abnormality of the skin
- Amenorrhea
- Bilateral sensorineural hearing impairment
- Pancytopenia
- Anorexia
- Situs inversus totalis
- Cardiac arrest
- Hoarse voice
And 43 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SLC19A2 gene
Here you will find a list of rare diseases related to the SLC19A2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME
Alternate names
THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME Is also known as thmd1, trma, thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness, rogers syndrome, thiamine-responsive myelodysplasia, thiamine metabolism dysfunction syndrome 1 (megaloblastic anemia, diabetes mellitus, and deafness type
Description
Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness.
Most common symptoms of THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME
- Seizures
- Global developmental delay
- Short stature
- Hearing impairment
- Microcephaly
More info about THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME
Search interest in SLC19A2
Potential gene panels for SLC19A2 gene
Hearing Loss Advanced Sequencing and CNV Evaluation Panel
United States.
By Athena Diagnostics Inc Hearing Loss Advanced Sequencing and CNV Evaluation that also includes the following genes: BCS1L ROR1 SALL1 SEMA3E SIX1 SIX5 SLC12A1 SLC19A2 SLC22A4 SNAI2
More info about this panel United States.
Thiamine-Responsive Megaloblastic Anemia Syndrome Panel
United States.
By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital
This panel specifically test the SLC19A2 gene.
More info about this panel United States.
Hearing Loss Panel Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Hearing Loss Panel that also includes the following genes: RPS6KA3 SALL1 SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SMPX SOX10 BTD
More info about this panel United States.
SLC19A2 sequencing Panel
United States.
By Genetic Services Laboratory University of Chicago
This panel specifically test the SLC19A2 gene.
More info about this panel United States.
SLC19A2 deletion/duplication analysis Panel
United States.
By Genetic Services Laboratory University of Chicago
This panel specifically test the SLC19A2 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.
SLC19A2. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the SLC19A2 gene.
More info about this panel Spain.
Thiamine-responsive megaloblastic anemia syndrome (sequence analysis of SLC19A2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the SLC19A2 gene.
More info about this panel Portugal.
Syndromic deafness (NGS panel for 62 genes) Panel
Portugal.
By CGC Genetics Syndromic deafness (NGS panel for 62 genes) that also includes the following genes: SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SOX10 TCOF1 TFAP2A TIMM8A TYR
More info about this panel Portugal.
Syndromic and non syndromic deafness (NGS panel for 127 genes) Panel
Portugal.
By CGC Genetics Syndromic and non syndromic deafness (NGS panel for 127 genes) that also includes the following genes: SEMA3E SIX1 SIX5 SLC12A1 SLC19A2 SNAI2 SMPX SOX10 TCOF1 TECTA
More info about this panel Portugal.
Diabetes mellitus permanent neonatal (NGS panel for 13 genes) Panel
Portugal.
By CGC Genetics Diabetes mellitus permanent neonatal (NGS panel for 13 genes) that also includes the following genes: SLC19A2 HNF1B IER3IP1 RFX6 PTF1A GLIS3 GATA6 GCK ABCC8 INS
More info about this panel Portugal.
Thiamine-Responsive Megaloblastic Anemia Syndrome Panel
United Kingdom.
By Exeter Molecular Genetics Laboratory
This panel specifically test the SLC19A2 gene.
More info about this panel United Kingdom.
Thiamine Responsive Megaloblastic Anemia via SLC19A2 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the SLC19A2 gene.
More info about this panel United States.
Thiamine-Responsive Megaloblastic Anemia Syndrome Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the SLC19A2 gene.
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.
Epilepsy and Mitochondrial Encephalopathy Panel
Germany.
By MGZ Medical Genetics Center Epilepsy and Mitochondrial Encephalopathy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCO1 SCO2 SDHA SDHB SDHC SDHD
More info about this panel Germany.
Mitochondrial Diseases Panel
Germany.
By MGZ Medical Genetics Center Mitochondrial Diseases that also includes the following genes: BCS1L SCO1 SCO2 SDHA SDHB SDHC SDHD SLC19A2 SLC22A5 SLC25A12
More info about this panel Germany.
Mitochondrial Anemia Panel
Germany.
By MGZ Medical Genetics Center Mitochondrial Anemia that also includes the following genes: SLC19A2 PUS1 YARS2 SLC25A38
More info about this panel Germany.
Mitochondrial Encephalopathy Panel
Germany.
By MGZ Medical Genetics Center Mitochondrial Encephalopathy that also includes the following genes: BCS1L SCO1 SCO2 SDHA SDHB SDHC SDHD SLC19A2 SLC25A12 SLC25A3
More info about this panel Germany.
Epilepsy Panel
Germany.
By MGZ Medical Genetics Center Epilepsy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCO1 SCO2 SDHA SDHB SDHC SDHD
More info about this panel Germany.
Congenital sideroblastic anemia panel Panel
Germany.
By Centogene AG - the Rare Disease Company Congenital sideroblastic anemia panel that also includes the following genes: SLC19A2 PUS1 TRNT1 GLRX5 YARS2 SLC25A38 ALAS2 ABCB7
More info about this panel Germany.
Syndromic Hearing Loss Panel Panel
Germany.
By CeGaT GmbH Syndromic Hearing Loss Panel that also includes the following genes: SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SOX10 TCOF1 TFAP2A TIMM8A TYR
More info about this panel Germany.
Nuclear encoded Mitochondriopathies Panel Panel
Germany.
By CeGaT GmbH Nuclear encoded Mitochondriopathies Panel that also includes the following genes: RMRP BCS1L MRPL3 SACS SCO1 SCO2 SDHA SDHB SDHC SDHD
More info about this panel Germany.
Hereditary Sideroblastic Anemia Panel
Estonia.
By Asper Biogene Asper Biogene LLC Hereditary Sideroblastic Anemia that also includes the following genes: SLC19A2 PUS1 TRNT1 GLRX5 YARS2 SLC25A38 ALAS2 ABCB7 HSPA9
More info about this panel Estonia.
NGS Panel for Congenital and Acquired Sideroblastic Anemia Panel
Spain.
By BLOODGENETICS BLOODGENETICS NGS Panel for Congenital and Acquired Sideroblastic Anemia that also includes the following genes: SF3B1 SLC19A2 PUS1 LARS2 TRNT1 GLRX5 NDUFB11 YARS2 STEAP3 SLC25A38
More info about this panel Spain.
Thiamine-responsive megaloblastic anemia syndrome: SLC19A2 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the SLC19A2 gene.
More info about this panel Spain.
Diabetes mellitus, neonatal permanent Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Diabetes mellitus, neonatal permanent that also includes the following genes: SLC19A2 HNF1B WFS1 NEUROG3 RFX6 PTF1A GLIS3 EIF2AK3 GATA6 GCK
More info about this panel Spain.
Pan-Ethnic Carrier Screen: Gene Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Pan-Ethnic Carrier Screen: Gene Sequencing Panel that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SGCG SGSH SLC12A6
More info about this panel United States.
Nuclear-Mito NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7
More info about this panel United States.
SLC19A2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SLC19A2 gene.
More info about this panel United States.
Comprehensive Hearing Loss and Deafness Panel Panel
Finland.
By Blueprint Genetics Comprehensive Hearing Loss and Deafness Panel that also includes the following genes: BCS1L RPS6KA3 SALL1 SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SMPX SOX10
More info about this panel Finland.
Syndromic Hearing Loss Panel Panel
Finland.
By Blueprint Genetics Syndromic Hearing Loss Panel that also includes the following genes: BCS1L SALL1 SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SOX10 BTD TWNK
More info about this panel Finland.
Comprehensive Hematology Panel Panel
Finland.
By Blueprint Genetics Comprehensive Hematology Panel that also includes the following genes: RHAG RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26
More info about this panel Finland.
Anemia Panel Panel
Finland.
By Blueprint Genetics Anemia Panel that also includes the following genes: RHAG RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS29
More info about this panel Finland.
Thiamine-responsive megaloblastic anemia syndrome Panel
Spain.
By Bioarray
This panel specifically test the SLC19A2 gene.
More info about this panel Spain.
MEGALOBLASTIC ANEMIA: NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL MEGALOBLASTIC ANEMIA: NGS PANEL that also includes the following genes: SLC19A2 AMN CUBN DHFR CBLIF
More info about this panel Spain.
MEGALOBLASTIC ANEMIA, THIAMINE-RESPONSIVE, WITH DIABETES MELLITUS AND SENSORINEURAL DEAFNESS Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the SLC19A2 gene.
More info about this panel Spain.
Thiamine-Responsive Megaloblastic Anemia Syndrome , Sequencing SLC19A2 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the SLC19A2 gene.
More info about this panel Spain.
Permanent Neonatal Diabetes Mellitus , Panel Massive Sequencing (NGS) 16 Genes Panel
Spain.
By Reference Laboratory Genetics Permanent Neonatal Diabetes Mellitus , Panel Massive Sequencing (NGS) 16 Genes that also includes the following genes: SLC19A2 HNF1B WFS1 NEUROG3 RFX6 PTF1A GLIS3 EIF2AK3 GATA6 GCK
More info about this panel Spain.
Megaloblastic Anemia and Related Disorders , Panel Massive Sequencing (NGS) 5 Genes Panel
Spain.
By Reference Laboratory Genetics Megaloblastic Anemia and Related Disorders , Panel Massive Sequencing (NGS) 5 Genes that also includes the following genes: SLC19A2 AMN CUBN DHFR CBLIF
More info about this panel Spain.
Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panel Canada.
Thiamine-Responsive Megaloblastic Anemia Syndrome: gene sequencing Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the SLC19A2 gene.
More info about this panel Canada.
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