AMT gene related symptoms and diseases
All the information presented here about the AMT gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to AMT gene
Symptoms // Phenotype | % Cases |
---|---|
Intellectual disability | Uncommon - Between 30% and 50% cases |
Poor suck | Uncommon - Between 30% and 50% cases |
Attention deficit hyperactivity disorder | Uncommon - Between 30% and 50% cases |
Severe global developmental delay | Uncommon - Between 30% and 50% cases |
Lethargy | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with AMT gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Neutropenia
- Coma
- Chorea
- Aciduria
- Intellectual disability, profound
- Hypsarrhythmia
- Choreoathetosis
- Limb ataxia
And 49 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to AMT gene
Here you will find a list of rare diseases related to the AMT. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
NEONATAL GLYCINE ENCEPHALOPATHY
Alternate names
NEONATAL GLYCINE ENCEPHALOPATHY Is also known as classic glycine encephalopathy, neonatal nkh, nkh, neonatal non-ketotic hyperglycinemia, hyperglycinemia, nonketotic
Description
Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE; see this term) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay.
Most common symptoms of NEONATAL GLYCINE ENCEPHALOPATHY
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
More info about NEONATAL GLYCINE ENCEPHALOPATHY
INFANTILE GLYCINE ENCEPHALOPATHY
Alternate names
INFANTILE GLYCINE ENCEPHALOPATHY Is also known as infantile non-ketotic hyperglycinemia, infantile nkh
Description
Infantile glycine encephalopathy is a mild to severe form of glycine encephalopathy (GE; see this term), characterized by early hypotonia, developmental delay and seizures.
More info about INFANTILE GLYCINE ENCEPHALOPATHY
SOURCES: ORPHANET
ATYPICAL GLYCINE ENCEPHALOPATHY
Alternate names
ATYPICAL GLYCINE ENCEPHALOPATHY Is also known as atypical non-ketotic hyperglycinemia, atypical nka
Description
Atypical glycine encephalopathy is a rare form of glycine encephalopathy (GE; see this term) presenting disease onset or clinical manifestations that differ from neonatal or infantile GE.
More info about ATYPICAL GLYCINE ENCEPHALOPATHY
SOURCES: ORPHANET
Search interest in AMT
Potential gene panels for AMT gene
MitoMet®Plus aCGH Analysis Panel

By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65
More info about this panel
AMT Deletion/Duplication Analysis Panel

By Baylor Miraca Genetics Laboratories
This panel specifically test the AMT gene.
More info about this panel
AMT Familial Mutation/Variant Analysis Panel

By Baylor Miraca Genetics Laboratories
This panel specifically test the AMT gene.
More info about this panel
AMT Prenatal Sequence Analysis Panel

By Baylor Miraca Genetics Laboratories
This panel specifically test the AMT gene.
More info about this panel
AMT Sequence & Deletion/Duplication Analysis Panel

By Baylor Miraca Genetics Laboratories
This panel specifically test the AMT gene.
More info about this panel
AMT Sequence Analysis Panel

By Baylor Miraca Genetics Laboratories
This panel specifically test the AMT gene.
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GeneAware Complete Panel Version 2 (Female) Panel

By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Female) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panel
GeneAware Complete Panel Version 2 (Male) Panel

By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Male) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panel
Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies Panel

By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN9A ST3GAL5 SLC2A1 SLC35A2 SLC6A1
More info about this panel
Epilepsy Advanced Sequencing and CNV Evaluation Panel

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
Epilepsy Advanced Sequencing and CNV Evaluation-Epileptic Encephalopathy Panel

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
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Syndromic Autism Panel Panel

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Syndromic Autism Panel that also includes the following genes: SCN1A SCN2A BRAF SLC2A1 SLC9A6 SMC1A KDM5C CDKL5 STXBP1 TBR1
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AMT - Related Glycine Encephalopathy, NonKetotic Hyperglycinimia - Sequencing Panel

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado
This panel specifically test the AMT gene.
More info about this panel
AMT - Related Glycine Encephalopathy, NonKetotic Hyperglycinimia - Del/Dup Analysis Panel

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado
This panel specifically test the AMT gene.
More info about this panel
Epilepsy/Seizure Panel

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Epilepsy/Seizure that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SLC2A1 SLC6A8 SLC9A6 BTD SPTAN1
More info about this panel
Infantile Epilepsy Panel

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Infantile Epilepsy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SLC2A1 SLC6A8 SLC9A6 BTD SPTAN1 CDKL5
More info about this panel
Epilepsy Panel - Comprehensive Panel

By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" Epilepsy Panel - Comprehensive that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SLC2A1 SLC6A8 SLC9A6 SPTAN1 CDKL5
More info about this panel
AMT. Complete sequencing Panel

By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the AMT gene.
More info about this panel
GLDC, AMT. NextGeneDx.Complete sequencing by NGS Panel

By Instituto de Medicina Genomica Instituto de Medicina Genomica GLDC, AMT. NextGeneDx.Complete sequencing by NGS that also includes the following genes: GLDC AMT
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Glycine encephalopathy (sequence analysis of AMT gene) Panel

By CGC Genetics
This panel specifically test the AMT gene.
More info about this panel
Epileptic encephalopathy (NGS panel for 67 genes) Panel

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
Glycine encephalopathy (deletion/duplications analysis on AMT gene) Panel

By CGC Genetics
This panel specifically test the AMT gene.
More info about this panel
Nonketotic hyperglycinemia/glycine encephalopathy (NGS panel of 3 genes) Panel

By CGC Genetics Nonketotic hyperglycinemia/glycine encephalopathy (NGS panel of 3 genes) that also includes the following genes: GCSH GLDC AMT
More info about this panel
Nonketotic hyperglycinemia/glycine encephalopathy (NGS panel of 3 genes) Panel

By CGC Genetics Nonketotic hyperglycinemia/glycine encephalopathy (NGS panel of 3 genes) that also includes the following genes: GCSH GLDC AMT
More info about this panel
AMT-Related Glycine Encephalopathy via AMT Gene Sequencing with CNV Detection Panel

By PreventionGenetics PreventionGenetics
This panel specifically test the AMT gene.
More info about this panel
Epilepsy and Seizure Plus Sequencing Panel with CNV Detection Panel

By PreventionGenetics PreventionGenetics Epilepsy and Seizure Plus Sequencing Panel with CNV Detection that also includes the following genes: RORB RYR3 SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SGCE
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Glycine Encephalopathy Sequencing Panel with CNV Detection Panel

By PreventionGenetics PreventionGenetics Glycine Encephalopathy Sequencing Panel with CNV Detection that also includes the following genes: GCSH GLDC AMT
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Mental retardation - different panels Panel

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
Aminomethyltransferase deficiency (AMT) Panel

By VU University Medical Center Metabolic Unit, PX 1X 009
This panel specifically test the AMT gene.
More info about this panel
AMT Panel

By Genome Diagnostics Laboratory University Medical Center Utrecht
This panel specifically test the AMT gene.
More info about this panel
Metabolic disease with epilepsy panel Panel

By Genome Diagnostics Laboratory University Medical Center Utrecht Metabolic disease with epilepsy panel that also includes the following genes: SLC2A1 GPHN DNAJC5 TPP1 CLN3 CLN5 CLN6 CLN8 CPT2 CTSD
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Glycine encephalopathy / non-ketonic hyperglycinemia panel Panel

By Genome Diagnostics Laboratory University Medical Center Utrecht Glycine encephalopathy / non-ketonic hyperglycinemia panel that also includes the following genes: GCSH GLDC AMT
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Comprehensive mitochondrial disorders panel Panel

By Centogene AG - the Rare Disease Company Comprehensive mitochondrial disorders panel that also includes the following genes: RNASEL BCS1L MRPL3 SARDH SCO1 SCO2 SCP2 SDHA SDHB SDHC
More info about this panel
Glycine encephalopathy Panel

By Centogene AG - the Rare Disease Company
This panel specifically test the AMT gene.
More info about this panel
AllNeuro panel Panel

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
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CentoICU platinum plus Panel

By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panel
New Born testing (CentoICU) Panel

By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panel
Epileptic Encephalopathy Panel Panel

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
Metabolic Epilepsy Panel Panel

By CeGaT GmbH Metabolic Epilepsy Panel that also includes the following genes: SLC25A15 BTD SUOX GPHN ACY1 L2HGDH GNE ADSL DPYD PNPO
More info about this panel
Nuclear encoded Mitochondriopathies Panel Panel

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
Glycine Encephalopathy Panel Panel

By CeGaT GmbH Glycine Encephalopathy Panel that also includes the following genes: GCSH GLDC AMT
More info about this panel
Single gene testing AMT Panel

By CeGaT GmbH
This panel specifically test the AMT gene.
More info about this panel
Nonketotic Hyperglycinemia Panel

By Laboratory of Human Genetics GENOMED Health Care Center
This panel specifically test the AMT gene.
More info about this panel
Brain malformations Panel

By Asper Biogene Asper Biogene LLC Brain malformations that also includes the following genes: STIL SLC12A6 SNAP29 TCF4 CEP41 TUBB2A TUBG1 VLDLR VRK1 ACTB
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AMT-Related Glycine Encephalopathy Panel

By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics
This panel specifically test the AMT gene.
More info about this panel
AMT Panel

By Division Human Genetics Medical University Innsbruck
This panel specifically test the AMT gene.
More info about this panel
qCarrier Plus Panel

By Quantitative Genomic Medicine Laboratories, SL qCarrier Plus that also includes the following genes: RMRP RP2 RPE65 RPGR RPS6KA3 RS1 SACS SGCA SGCB SGSH
More info about this panel
Invitae Glycine Encephalopathy Panel Panel

By Invitae Invitae Glycine Encephalopathy Panel that also includes the following genes: SLC6A9 NFU1 LIAS GCSH GLDC AMT
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Invitae Neurotransmitter Disorders Panel Panel

By Invitae Invitae Neurotransmitter Disorders Panel that also includes the following genes: SLC6A3 SLC6A5 SPR TH ARHGEF9 GPHN PSAT1 SLC25A22 ABAT DBH
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Invitae Elevated Glycine Panel Panel

By Invitae Invitae Elevated Glycine Panel that also includes the following genes: SLC6A9 NFU1 LIAS GCSH GLDC AMT
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Invitae Treatable Neurometabolic Disorders Panel Panel

By Invitae Invitae Treatable Neurometabolic Disorders Panel that also includes the following genes: SGSH SLC25A13 SLC25A15 SLC2A1 SLC6A8 BTD SPR TAT TH NPC2
More info about this panel
Glycine encephalopathy: AMT gene sequence analysis Panel

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the AMT gene.
More info about this panel
Epileptic encephalopathies Panel

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Epileptic encephalopathies that also includes the following genes: SCN1A SCN2A SCN8A ST3GAL3 SLC2A1 SPTAN1 CDKL5 STXBP1 TREX1 WWOX
More info about this panel
Inheritest NGS, Comprehensive Panel

By Integrated Genetics Westborough Integrated Genetics Inheritest NGS, Comprehensive that also includes the following genes: RMRP BCS1L SACS BLM SGSH SLC12A6 SLC17A5 SLC22A5 SLC26A2 SLC35A3
More info about this panel
AMT-related glycine encephalopathy Panel

By Integrated Genetics Westborough Integrated Genetics
This panel specifically test the AMT gene.
More info about this panel
Epilepsy NGS Panel Panel

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
Lysosomal Disorders NGS Panel Panel

By Fulgent Genetics Fulgent Genetics Lysosomal Disorders NGS Panel that also includes the following genes: SGSH SLC17A5 SLC25A15 SMPD1 BTD SUOX TCF4 MCOLN1 NPC2 ADAMTSL2
More info about this panel
Nuclear-Mito NGS Panel Panel

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
AMT Panel

By Fulgent Genetics Fulgent Genetics
This panel specifically test the AMT gene.
More info about this panel
Comprehensive Epilepsy NGS Panel Panel

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
Lysosomal Disorders and Mucopolysaccharidosis Panel Panel

By Blueprint Genetics Lysosomal Disorders and Mucopolysaccharidosis Panel that also includes the following genes: SGSH SLC17A5 SLC25A15 SMPD1 BTD SUOX TCF4 MYOT MCOLN1 NPC2
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Comprehensive Metabolism Panel Panel

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
Metabolic Epilepsy Panel Panel

By Blueprint Genetics Metabolic Epilepsy Panel that also includes the following genes: SLC25A1 SLC25A15 SLC2A1 BTD SUOX GPHN L2HGDH SLC39A8 SERAC1 ABAT
More info about this panel
Epileptic Encephalopathy Panel Panel

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
Comprehensive Epilepsy Panel Panel

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
Nonketotic Hyperglycinemia / Glycine Encephalopathy Panel Panel

By Blueprint Genetics Nonketotic Hyperglycinemia / Glycine Encephalopathy Panel that also includes the following genes: SLC6A9 NFU1 LIAS GLRX5 BOLA3 LIPT1 GCSH GLDC AMT
More info about this panel
Isolated nonketotic hyperglycinemia Panel

By Bioarray
This panel specifically test the AMT gene.
More info about this panel
NONKETOTIC HYPERGLYCINEMIA (INFANTILE GLYCINE ENCEPHALOPATHY) Panel

By Laboratorio de Genetica Clinica SL NONKETOTIC HYPERGLYCINEMIA (INFANTILE GLYCINE ENCEPHALOPATHY) that also includes the following genes: GCSH GLDC AMT
More info about this panel
Glycine Encephalopathy , Sequencing AMT Gene Panel

By Reference Laboratory Genetics
This panel specifically test the AMT gene.
More info about this panel
Glycine Encephalopathy , Panel Massive Sequencing (NGS) GLDC, AMT, GCSH Genes Panel

By Reference Laboratory Genetics Glycine Encephalopathy , Panel Massive Sequencing (NGS) GLDC, AMT, GCSH Genes that also includes the following genes: GCSH GLDC AMT
More info about this panel
Glycine Encephalopathy: gene sequencing panel Panel

By CEN4GEN Institute for Genomics and Molecular Diagnostics Glycine Encephalopathy: gene sequencing panel that also includes the following genes: GCSH GLDC AMT
More info about this panel
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