HEXB

hexosaminidase subunit beta
OMIM: 606873
PanelMode of inheritanceDetails
8 panels
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 2.23
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Sandhoff disease, infantile, juvenile, and adult forms, 268800
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GM2-GANGLIOSIDOSIS TYPE 2 268800
R-numbers: R59
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Sandhoff disease, infantile, juvenile, and adult forms, 268800, seizures, myoclonic epilepsy
R-numbers: R54
Signed-off version 2.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Sandhoff disease, infantile, juvenile, and adult forms, 268800, Sandhoff disease, 268800
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
Sandhoff disease, infantile, juvenile, and adult forms, 268800
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
Sandhoff disease, infantile, juvenile, and adult forms, 268800, GM2-GANGLIOSIDOSIS TYPE 2 (GM2G2)
R-numbers: R276
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Sandhoff disease, infantile, juvenile, and adult forms 268800
R-numbers: R58
Signed-off version 2.31
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Sandhoff disease, infantile, juvenile, and adult forms, 268800