GLB1

galactosidase beta 1
OMIM: 611458
PanelMode of inheritanceDetails
11 panels
R-numbers: R62
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
white matter abnormality
R-numbers: R57
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GM1-gangliosidosis, type III, 230650
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GM1-GANGLIOSIDOSIS TYPE 1 230500, MUCOPOLYSACCHARIDOSIS TYPE 4B 253010, GM1-GANGLIOSIDOSIS TYPE 2 230600, GM1-GANGLIOSIDOSIS TYPE 3 230650
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
GM1-gangliosidosis, type II, 230600, seizures
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GM1-GANGLIOSIDOSIS TYPE 1, GM1-GANGLIOSIDOSIS TYPE 2, GM1-GANGLIOSIDOSIS TYPE 3, MUCOPOLYSACCHARIDOSIS TYPE 4B
R-numbers: R288
Signed-off version 1.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
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
GM1-gangliosidosis, type I, 230500GM1-gangliosidosis, type II, 230600GM1-gangliosidosis, type III, 230650Mucopolysaccharidosis type IVB (Morquio), 253010, MUCOPOLYSACCHARIDOSIS TYPE 4B (MPS4B)
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
MUCOPOLYSACCHARIDOSIS TYPE 4B, MPS IVB, Morquio B disease (MPS IV, Morquio disease), Mucopolysaccharidosis type IVB (Morquio), 253010, GM1-gangliosidosis (Sphingolipidoses), GM1-gangliosidosis, type II, 230600, GM1-gangliosidosis, type III, 230650, Mucopolysaccharidosis, Type IV, Mucopolysaccharidosis Type IVB, GM1-gangliosidosis, type I, 230500
R-numbers: R276
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucopolysaccharidosis type IVB (Morquio) OMIM:253010, mucopolysaccharidosis type 4B MONDO:0009660, GM1-gangliosidosis, type III OMIM:230650, GM1 gangliosidosis type 3 MONDO:0009262, GM1-gangliosidosis, type I OMIM:230500, GM1 gangliosidosis type 1 MONDO:0009260, GM1-gangliosidosis, type II OMIM:230600, GM1 gangliosidosis type 2 MONDO:0009261
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GM1-gangliosidosis, type II 230600, GM1-gangliosidosis, type I 230500, GM1-gangliosidosis, type III 230650, Mucopolysaccharidosis type IVB (Morquio) 253010
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GM1-gangliosidosis, type I, OMIM:230500, GM1-gangliosidosis, type II, OMIM:230600