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Intellectual disability syndromic and non-syndromic

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

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Classified as Definitive by ClinGen on 12/08/2022 - https://search.clinicalgenome.org/CCID:004970

Reported individuals shown to have developmental regression along with the inborn error of lysosomal metabolism.
Created: 17 Sep 2024, 4 a.m. | Last Modified: 17 Sep 2024, 4 a.m.
Panel Version: 0.6222

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Tay-Sachs disease AB variant MONDO:0010099

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Tay-Sachs disease AB variant MONDO:0010099
OMIM
613109
Clinvar variants
Variants in GM2A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Nov 2024, 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).

14 Nov 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GM2A were changed from to Tay-Sachs disease AB variant MONDO:0010099

14 Nov 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GM2A were set to

14 Nov 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: GM2A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GM2A was added gene: GM2A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GM2A was set to Unknown