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  3. GM2A
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TEST Undiagnosed metabolic disorders

Gene: GM2A

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

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Literature
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
OMIM
613109
Clinvar variants
Variants in GM2A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Aug 2019, Gel status: 3

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

Sarah Leigh (Genomics England Curator)

gene: GM2A was added gene: GM2A was added to TEST Undiagnosed metabolic disorders. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert Review Green,Literature,Emory Genetics Laboratory Mode of inheritance for gene: GM2A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GM2A were set to 27604308