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  2. Dystonia - complex
  3. GM2A
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Dystonia - complex

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

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Dystonia is a feature of the phenotype
Sources: Expert list
Created: 30 Dec 2019, 10:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
GM2-gangliosidosis, AB variant, MIM#272750

Created: 30 Dec 2019, 10:44 a.m.

Panel version: 0.7

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

30 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

30 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

30 Dec 2019, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: GM2A was added gene: GM2A was added to Dystonia - complex_RMH. 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