HEXB

hexosaminidase subunit beta
OMIM: 606873
PanelMode of inheritanceDetails
10 panels
R-numbers: R58
Signed-off version 5.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 5.3
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 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GM2-GANGLIOSIDOSIS TYPE 2 268800
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 5.10
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800
R-numbers: R54
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800
R-numbers: R78
Signed-off version 4.11
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800
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 5.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800
R-numbers: R276
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Sandhoff disease, infantile, juvenile, and adult forms OMIM:268800, Sandhoff disease MONDO:0010006
R-numbers: R285
Signed-off version 1.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes