GM2A gene related symptoms and diseases

All the information presented here about the GM2A gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to GM2A gene

Symptoms // Phenotype % Cases
Seizures Very Common - Between 80% and 100% cases
Exaggerated startle response Very Common - Between 80% and 100% cases
Chorea Very Common - Between 80% and 100% cases
Tetraparesis Very Common - Between 80% and 100% cases
Aspiration Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with GM2A gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Spastic tetraparesis
  • Poor head control
  • Apathy
  • Limb dystonia
  • Loss of speech
  • Primitive reflex
  • Inappropriate behavior
  • Neurodegeneration

And 34 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to GM2A gene

Here you will find a list of rare diseases related to the GM2A. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


GM2 GANGLIOSIDOSIS, AB VARIANT


Alternate names

GM2 GANGLIOSIDOSIS, AB VARIANT Is also known as tay-sachs disease, ab variant, ab variant gm2-gangliosidosis, hexosaminidase activator deficiency, gm2 activator deficiency

Description

GM2 gangliosidosis, AB variant is an extremely rare, severe genetic disorder characterized by progressive neurological decline due to ganglioside activator deficiency.

Most common symptoms of GM2 GANGLIOSIDOSIS, AB VARIANT

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Failure to thrive


More info about GM2 GANGLIOSIDOSIS, AB VARIANT

SOURCES: MESH OMIM ORPHANET


Potential gene panels for GM2A gene

MitoMet®Plus aCGH Analysis Panel

United States.

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

Lysosomal Storage Disease Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Lysosomal Storage Disease Panel that also includes the following genes: SGSH SLC17A5 SMPD1 TCF4 MCOLN1 NPC2 ADAMTSL2 DNAJC5 SUMF1 TPP1

More info about this panel

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

Lysosomal Storage Disease Panel Panel

Argentina.

By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" Lysosomal Storage Disease Panel that also includes the following genes: SGSH SLC17A5 SMPD1 MCOLN1 NPC2 DNAJC5 SUMF1 TPP1 CLN3 CLN5

More info about this panel

GM2-gangliosidosis, AB variant Panel

Switzerland.

By Human Genetics University Hospital Bern

This panel specifically test the GM2A gene.

More info about this panel

GM2A. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the GM2A gene.

More info about this panel

Tay Sach’s Disease - GM2 Gangliosidosis (sequence analysis of gene GM2A) Panel

Portugal.

By CGC Genetics

This panel specifically test the GM2A gene.

More info about this panel

GM2-Gangliosidosis Variant AB via GM2A Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the GM2A gene.

More info about this panel

Tay-Sachs disease AB variant Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the GM2A gene.

More info about this panel

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

Choreatic Movement Disorders Panel Panel

Germany.

By CeGaT GmbH Choreatic Movement Disorders Panel that also includes the following genes: ATXN1 ATXN2 ATXN7 TBP NKX2-1 FRRS1L JPH3 RNF216 ADCY5 C9orf72

More info about this panel

Lysosomal Storage Disease Panel

Estonia.

By Asper Biogene Asper Biogene LLC Lysosomal Storage Disease that also includes the following genes: SGSH SLC17A5 SMPD1 MCOLN1 NPC2 DNAJC5 SUMF1 TPP1 CLN3 CLN5

More info about this panel

Invitae GM2 Gangliosidosis Panel Panel

United States.

By Invitae Invitae GM2 Gangliosidosis Panel that also includes the following genes: GM2A HEXA HEXB

More info about this panel

Invitae Comprehensive Lysosomal Storage Disorders Panel Panel

United States.

By Invitae Invitae Comprehensive Lysosomal Storage Disorders Panel that also includes the following genes: SGSH SLC17A5 SMPD1 MCOLN1 NPC2 DNAJC5 SUMF1 TPP1 CLN3 CLN5

More info about this panel

GM2-Gangliosidosis AB Variant: GM2A Gene Sequencing Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the GM2A gene.

More info about this panel

Lysosomal Storage Disorders: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Lysosomal Storage Disorders: Sequencing Panel that also includes the following genes: SGSH SLC17A5 SMPD1 ADAMTS10 MCOLN1 NPC2 DNAJC5 SUMF1 TPP1 CLN3

More info about this panel

Inherited Metabolic Disorders: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Inherited Metabolic Disorders: Sequencing Panel that also includes the following genes: SGSH SLC17A5 SLC22A5 SLC25A13 SLC25A15 SLC7A7 SMPD1 SUCLG1 TAZ LPIN1

More info about this panel

Lysosomal Disorders NGS Panel Panel

United States.

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

Intellectual Disability NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3

More info about this panel

GM2A Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the GM2A gene.

More info about this panel

Lysosomal Disorders and Mucopolysaccharidosis Panel Panel

Finland.

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

More info about this panel

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

Tay-Sachs disease AB variant Panel

Spain.

By Bioarray

This panel specifically test the GM2A gene.

More info about this panel

GM2 GANGLIOSIDOSIS Panel

Spain.

By Laboratorio de Genetica Clinica SL GM2 GANGLIOSIDOSIS that also includes the following genes: GM2A HEXB

More info about this panel

Peroxisomal and Lysosomal Diseases , Panel Massive Sequencing (NGS) 78 Genes Panel

Spain.

By Reference Laboratory Genetics Peroxisomal and Lysosomal Diseases , Panel Massive Sequencing (NGS) 78 Genes that also includes the following genes: SCP2 SGSH SLC17A5 SMPD1 ACOX1 MCOLN1 AGXT2 NPC2 CAT DNAJC5

More info about this panel

GM1 and GM2 Gangliosidosis, Panel Massive Sequencing (NGS) GLB1, GM2A, HEXA, HEXB Gene Panel

Spain.

By Reference Laboratory Genetics GM1 and GM2 Gangliosidosis, Panel Massive Sequencing (NGS) GLB1, GM2A, HEXA, HEXB Gene that also includes the following genes: GLB1 GM2A HEXA HEXB

More info about this panel

Storage and Energetic Metabolism Diseases , Panel Massive Sequencing (NGS) 82 genes Panel

Spain.

By Reference Laboratory Genetics Storage and Energetic Metabolism Diseases , Panel Massive Sequencing (NGS) 82 genes that also includes the following genes: SCP2 SGSH SLC17A5 SMPD1 ACOX1 MCOLN1 NPC2 DNAJC5 SUMF1 TPP1

More info about this panel

GM2 activator protein deficiency: GM2A gene sequencing Panel

India.

By Foundation for Research In Genetics and Endocrinology and Institute of Human Genetics Institute of Human Genetics

This panel specifically test the GM2A gene.

More info about this panel


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