GALC

galactosylceramidase
OMIM: 606890
PanelMode of inheritanceDetails
11 panels
R-numbers: R60
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Krabbe disease, OMIM:245200
R-numbers: R62
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Krabbe disease, OMIM:245200
R-numbers: R61
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Krabbe disease OMIM:245200
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
KRABBE DISEASE 245200
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Krabbe disease, OMIM:245200
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Krabbe disease, OMIM:245200
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Krabbe disease, OMIM:245200
R-numbers: R280
Signed-off version 1.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
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 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Krabbe disease, OMIM:245200
R-numbers: R276
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Krabbe disease OMIM:245200, Krabbe disease MONDO:0009499
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Krabbe disease, OMIM:245200