GM2A

GM2 ganglioside activator
OMIM: 613109
PanelMode of inheritanceDetails
6 panels
R-numbers: R57
Signed-off version 1.137
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GM2-gangliosidosis, AB variant, 272750
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GM2-GANGLIOSIDOSIS TYPE AB 272750
R-numbers: R59
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GM2-gangliosidosis, AB variant, 272750, seizures, Hexosaminidase activator deficiency, Tay-Sachs disease
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GM2-gangliosidosis, AB variant, 272750
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GM2-gangliosidosis, AB variant, 272750, GM2-GANGLIOSIDOSIS TYPE AB (GM2GAB)
R-numbers: R276
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GM2-gangliosidosis, AB variant 272750