ABAT gene related symptoms and diseases

All the information presented here about the ABAT gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,HGNC,NCBIGENE.

Top 5 symptoms associated to ABAT gene



Symptoms // Phenotype % Cases
Autosomal recessive inheritance Uncommon - Between 30% and 50% cases
Death in childhood Uncommon - Between 30% and 50% cases
Tall stature Uncommon - Between 30% and 50% cases
Leukodystrophy Uncommon - Between 30% and 50% cases
Spastic tetraparesis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with ABAT gene alterations may also develop some of the following symptoms and phenotypes:

Not very common - Between 30% and 50% cases

Severe muscular hypotonia Ketonuria Protruding tongue Abnormal cortical gyration Esotropia Posterior fossa cyst Multifocal epileptiform discharges High-pitched cry

And 23 more phenotypes.

Mendelian

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Rare diseases associated to ABAT gene

Here you will find a list of rare diseases related to the ABAT. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


GABA-TRANSAMINASE DEFICIENCY

Alternate names

GABA-TRANSAMINASE DEFICIENCY Is also known as ;gaba transaminase deficiency

Description

GABA-transaminase deficiency is characterized by neonatal or early infantile-onset encephalopathy, hypotonia, hypersomnolence, epilepsy, choreoathetosis, and accelerated linear growth. Electroencephalograms show burst-suppression, modified hypsarrhythmia, multifocal spikes, and generalized spike-wave. Severity varies, but most patients have profound developmental impairment and some patients die in infancy (summary by Koenig et al., 2017).

Most common symptoms of GABA-TRANSAMINASE DEFICIENCY

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Motor delay


More info about GABA-TRANSAMINASE DEFICIENCY

SOURCES: DOID SCTID OMIM GARD ORPHANET MONDO MESH UMLS

HYPERREFLEXIA; HRX

Description

Autonomic nervous system overreaction to stimuli, most commonly after spinal cord injury at a T-5 level and above.

Most common symptoms of HYPERREFLEXIA; HRX

  • Autosomal dominant inheritance
  • Microcephaly
  • Abnormality of retinal pigmentation
  • Ankle clonus


More info about HYPERREFLEXIA; HRX

SOURCES: MONDO UMLS MESH OMIM SCTID

Potential gene panels for ABAT gene

MitoMet®Plus aCGH Analysis Panel

By Baylor Miraca Genetics Laboratories in United States. MitoMet®Plus aCGH Analysis that also includes the following genes: BRCA1 MTHFR UBE3A VHL MUTYH TP53 MCCC1 MCCC2 AARS2 ABCB11

More info about this panel

Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies Panel

By Athena Diagnostics Inc in United States. Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies that also includes the following genes: ALPL ADSL SLC25A19 LIAS ABAT GAMT GATM SUCLA2 ALG9 GLDC

More info about this panel

Epilepsy Advanced Sequencing and CNV Evaluation Panel

By Athena Diagnostics Inc in United States. Epilepsy Advanced Sequencing and CNV Evaluation that also includes the following genes: UBE3A ALPL ADSL PAX6 CPT2 ATP6V0A2 HSD17B10 HPRT1 ADGRV1 SHH

More info about this panel

Epilepsy Advanced Sequencing and CNV Evaluation - Intellectual Disability Panel

By Athena Diagnostics Inc in United States. Epilepsy Advanced Sequencing and CNV Evaluation - Intellectual Disability that also includes the following genes: ADSL HSD17B10 MECP2 ABAT GAMT GATM ALG9 SLC9A6 SLC6A8 ARX

More info about this panel

NGS Epilepsy/Seizure Panel Panel

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. NGS Epilepsy/Seizure Panel that also includes the following genes: MTHFR UBE3A ADSL SHH POLG SLC25A19 MECP2 LIAS ABAT GAMT

More info about this panel

Mitochondrial Depletion Panel Panel

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. Mitochondrial Depletion Panel that also includes the following genes: TWNK OPA1 POLG SLC25A4 RRM2B MFN2 OPA3 AGK DGUOK ABAT

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Epilepsy/Seizure Panel

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. Epilepsy/Seizure that also includes the following genes: MTHFR UBE3A BTD ADSL MMACHC ADGRV1 POLG MECP2 LIAS ABAT

More info about this panel

Gamma-aminobutyric acid transaminase deficiency (sequence analysis of ABAT gene) Panel

By CGC Genetics in Portugal.

This panel specifically test the ABAT gene.

More info about this panel

Epilepsy and Seizure Plus Sequencing Panel with CNV Detection Panel

By PreventionGenetics PreventionGenetics in United States. Epilepsy and Seizure Plus Sequencing Panel with CNV Detection that also includes the following genes: UBE3A PTEN ADSL POLG MECP2 LIAS DHDDS ABAT SLC25A12 GAMT

More info about this panel

4-Aminobutyrate aminotransferase (ABAT) deficiency (GABA-T) Panel

By VU University Medical Center Metabolic Unit, PX 1X 009 in Netherlands.

This panel specifically test the ABAT gene.

More info about this panel

Comprehensive mitochondrial disorders panel Panel

By Centogene AG - the Rare Disease Company in Germany. Comprehensive mitochondrial disorders panel that also includes the following genes: MCCC1 MCCC2 ACAD9 ACADM ACADS ACADVL ACAT1 PC UQCRB HLCS

More info about this panel

AllNeuro panel Panel

By Centogene AG - the Rare Disease Company in Germany. AllNeuro panel that also includes the following genes: F2 F5 FMR1 HTT HFE MTHFR TTR UBE3A VHL PTEN

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CentoICU platinum plus Panel

By Centogene AG - the Rare Disease Company in Germany. CentoICU platinum plus that also includes the following genes: BRCA2 F2 F5 MTHFR UBE3A MCCC1 MCCC2 AARS2 ACAD9 ACADL

More info about this panel

CentoICU platinum Panel

By Centogene AG - the Rare Disease Company in Germany. CentoICU platinum that also includes the following genes: BRCA2 F2 F5 MTHFR UBE3A MCCC1 MCCC2 AARS2 ACAD9 ACADL

More info about this panel

GABA-transaminase deficiency Panel

By Centogene AG - the Rare Disease Company in Germany.

This panel specifically test the ABAT gene.

More info about this panel

Invitae Neurotransmitter Disorders Panel Panel

By Invitae in United States. Invitae Neurotransmitter Disorders Panel that also includes the following genes: ABAT SPR SLC25A22 GCSH GLDC AMT GAD1 MAOA ALDH5A1 ALDH7A1

More info about this panel

Epilepsy and Seizure Disorders: Sequencing Panel Panel

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. Epilepsy and Seizure Disorders: Sequencing Panel that also includes the following genes: MTHFR UBE3A ADSL ADGRV1 SHH POLG SLC25A19 MECP2 LIAS ABAT

More info about this panel

Epilepsy and Seizure Disorders: Deletion/Duplication Panel Panel

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. Epilepsy and Seizure Disorders: Deletion/Duplication Panel that also includes the following genes: MTHFR UBE3A ADSL ADGRV1 SHH POLG SLC25A19 MECP2 LIAS ABAT

More info about this panel

Epilepsy NGS Panel Panel

By Fulgent Genetics Fulgent Genetics in United States. Epilepsy NGS Panel that also includes the following genes: MTHFR UBE3A PC ARG1 BTD ATPAF2 BCS1L C12orf65 ADSL PAX6

More info about this panel

Leukoencephalopathy NGS Panel Panel

By Fulgent Genetics Fulgent Genetics in United States. Leukoencephalopathy NGS Panel that also includes the following genes: PTEN PSAP HSPD1 SCP2 ABAT SLC25A12 DARS2 ALDH3A2 ACOX1 ARSA

More info about this panel

Nuclear-Mito NGS Panel Panel

By Fulgent Genetics Fulgent Genetics in United States. Nuclear-Mito NGS Panel that also includes the following genes: HTT UBE3A MUTYH TP53 MCCC1 MCCC2 AARS2 ACACA ACAD9 ACADL

More info about this panel

ABAT Panel

By Fulgent Genetics Fulgent Genetics in United States.

This panel specifically test the ABAT gene.

More info about this panel

Comprehensive Epilepsy NGS Panel Panel

By Fulgent Genetics Fulgent Genetics in United States. Comprehensive Epilepsy NGS Panel that also includes the following genes: MTHFR UBE3A PC ARG1 BTD ATPAF2 AUH BCS1L TWNK C12orf65

More info about this panel

Metabolic Epilepsy Panel Panel

By Blueprint Genetics in Finland. Metabolic Epilepsy Panel that also includes the following genes: MTHFR ARG1 BTD ADSL PRODH GNE POLG FH DNM1L ABAT

More info about this panel

Epileptic Encephalopathy Panel Panel

By Blueprint Genetics in Finland. Epileptic Encephalopathy Panel that also includes the following genes: HTT MTHFR UBE3A ADSL CPT2 POLG NDUFS4 MECP2 DNM1L TTC19

More info about this panel

Comprehensive Epilepsy Panel Panel

By Blueprint Genetics in Finland. Comprehensive Epilepsy Panel that also includes the following genes: HTT MTHFR UBE3A ARG1 BTD ADSL AMACR CPT2 PSAP GLB1

More info about this panel

GABA-Transaminase Deficiency , Sequencing ABAT Gene Panel

By Reference Laboratory Genetics in Spain.

This panel specifically test the ABAT gene.

More info about this panel


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