Lysosomal storage disorder
Gene: GM2A

GM2A (GM2 ganglioside activator)
EnsemblGeneIds (GRCh38): ENSG00000196743
EnsemblGeneIds (GRCh37): ENSG00000196743
OMIM: 613109, Gene2Phenotype
GM2A is in 9 panels

1 review

Emma Ashton (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 13 Feb 2019, 1:33 p.m.

Panel version: 0.3

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Wessex and West Midlands GLH
Expert Review Green
North London GLH

Phenotypes

GM2-gangliosidosis, AB variant OMIM:272750
Tay-Sachs disease AB variant MONDO:0010099

OMIM

613109

Clinvar variants

Variants in GM2A

Penetrance

None

Panels with this gene

History Filter Activity

16 Mar 2021, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: GM2A were changed from GM2-gangliosidosis, AB variant 272750 to GM2-gangliosidosis, AB variant OMIM:272750; Tay-Sachs disease AB variant MONDO:0010099

13 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: GM2A was added gene: GM2A was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS Mode of inheritance for gene: GM2A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GM2A were set to GM2-gangliosidosis, AB variant 272750

Lysosomal storage disorder Gene: GM2A