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Gene: GM2A

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

1 review

Kate Scarff (Victorian Clinical Genetics Services)

Green List (high evidence)

Neurodegenerative disorder in which infants, who are generally normal at birth, have progressive weakness and slowing of developmental progress between ages four and 12 months. An ensuing developmental plateau is followed by progressively rapid developmental regression. By the second year of life decerebrate posturing, difficulty in swallowing, and worsening seizures lead to an unresponsive vegetative state. Death usually occurs between ages two and three years.
>10 infants reported with condition.
A slightly later juvenile onset form of the condition has been reported in a couple of families.
Created: 28 Nov 2024, 3:12 a.m. | Last Modified: 28 Nov 2024, 3:12 a.m.

Panel Version: 1.608

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
GM2-gangliosidosis, AB variant MIM #272750

Publications

Created: 28 Nov 2024, 3:12 a.m.
Last Modified: 28 Nov 2024, 3:12 a.m.
Panel version: 1.608

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Mackenzie's Mission

Phenotypes

GM2-gangliosidosis, AB variant, 272750 (3)

OMIM

613109

Clinvar variants

Variants in GM2A

Penetrance

None

Panels with this gene

History Filter Activity

1 Jun 2022, Gel status: 3

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 Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green 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 (3)

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