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.
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
Search interest in GM2A
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 United States.
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 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.
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 Argentina.
GM2-gangliosidosis, AB variant Panel
Switzerland.
By Human Genetics University Hospital Bern
This panel specifically test the GM2A gene.
More info about this panel Switzerland.
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 Spain.
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 Portugal.
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 United States.
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 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.
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 Germany.
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 Estonia.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
GM2A Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the GM2A gene.
More info about this panel United States.
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 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.
Tay-Sachs disease AB variant Panel
Spain.
By Bioarray
This panel specifically test the GM2A gene.
More info about this panel Spain.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
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 India.
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