HEXB

hexosaminidase subunit beta
OMIM: 606873
PanelMode of inheritanceDetails
9 panels
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GM2-GANGLIOSIDOSIS TYPE 2 268800
R-numbers: R59
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800
R-numbers: R54
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800
R-numbers: R78
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800
R-numbers: R276
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Sandhoff disease, infantile, juvenile, and adult forms OMIM:268800, Sandhoff disease MONDO:0010006
R-numbers: R58
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800