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  2. Lysosomal Storage Disorder
  3. GM2A
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Lysosomal Storage Disorder

Gene: GM2A

Green List (high evidence)
GM2A (GM2 ganglioside activator)
EnsemblGeneIds (GRCh38): ENSG00000196743
EnsemblGeneIds (GRCh37): ENSG00000196743
OMIM: 613109, Gene2Phenotype
GM2A is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Sources: Expert list
Created: 24 Jul 2020, 1:14 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
GM2-gangliosidosis, AB variant, MIM# 272750

Created: 24 Jul 2020, 1:14 a.m.

Panel version: 0.45

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • GM2-gangliosidosis, AB variant, MIM# 272750
OMIM
613109
Clinvar variants
Variants in GM2A
Penetrance
None
Panels with this gene

History Filter Activity

24 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gm2a has been classified as Green List (High Evidence).

24 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gm2a has been classified as Green List (High Evidence).

24 Jul 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GM2A was added gene: GM2A was added to Lysosomal Storage Disorder. Sources: Expert list Mode of inheritance for gene: GM2A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GM2A were set to GM2-gangliosidosis, AB variant, MIM# 272750 Review for gene: GM2A was set to GREEN