Genomics England
GMS Panels
Panels
Genes and Entities

GM2A

GM2 ganglioside activator
OMIM: 613109
PanelMode of inheritanceDetails
6 panels
Green
in Childhood onset dystonia, chorea or related movement disorder
R-numbers: R57
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GM2-gangliosidosis, AB variant, 272750
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GM2-GANGLIOSIDOSIS TYPE AB 272750
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GM2-gangliosidosis, AB variant, 272750, seizures, Hexosaminidase activator deficiency, Tay-Sachs disease
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GM2-gangliosidosis, AB variant, 272750, GM2-GANGLIOSIDOSIS TYPE AB (GM2GAB)
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GM2-gangliosidosis, AB variant, 272750
Green
in Lysosomal storage disorder
R-numbers: R276
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GM2-gangliosidosis, AB variant OMIM:272750, Tay-Sachs disease AB variant MONDO:0010099