Genes in panel

Likely inborn error of metabolism - targeted testing not possible

Gene: GM2A

Green List (high evidence)

GM2A (GM2 ganglioside activator)
EnsemblGeneIds (GRCh38): ENSG00000196743
EnsemblGeneIds (GRCh37): ENSG00000196743
OMIM: 613109, Gene2Phenotype
GM2A is in 10 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 6 variants reported in 6 cases
Created: 16 Jan 2017, 3:51 p.m.
Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)
Created: 6 Jan 2017, 1:59 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Intellectual disability

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to GM2A. Source London North GLH was added to GM2A.

9 Jan 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: GM2A were changed from to GM2-gangliosidosis, AB variant, 272750

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: GM2A was added gene: GM2A was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GM2A was set to BIALLELIC, autosomal or pseudoautosomal