GALE

UDP-galactose-4-epimerase
OMIM: 606953
PanelMode of inheritanceDetails
5 panels
Green
in Cholestasis
R-numbers: R171
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Galactose epimerase deficiency, OMIM:230350, MONDO:0009257
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
EPIMERASE-DEFICIENCY GALACTOSEMIA 230350
R-numbers: R21, R412
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
EPIMERASE-DEFICIENCY GALACTOSEMIA
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
Intellectual disability, Uridine diphosphate galactose-4-epimerase deficiency (Disorders of galactose metabolism), Galactose epimerase deficiency, OMIM:230350, MONDO:0009257
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
Galactose epimerase deficiency, 230350, EPIMERASE-DEFICIENCY GALACTOSEMIA (EDG)