Genomics England
GMS Panels
Panels
Genes and Entities

GALE

UDP-galactose-4-epimerase
OMIM: 606953
PanelMode of inheritanceDetails
5 panels
Green
in Cholestasis
R-numbers: R171
Signed-off version 3.0
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
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
EPIMERASE-DEFICIENCY GALACTOSEMIA
Green
in Intellectual disability - microarray and sequencing
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Galactose epimerase deficiency, 230350, EPIMERASE-DEFICIENCY GALACTOSEMIA (EDG)
Green
in Likely inborn error of metabolism - targeted testing not possible
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 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Intellectual disability, Uridine diphosphate galactose-4-epimerase deficiency (Disorders of galactose metabolism), Galactose epimerase deficiency, OMIM:230350, MONDO:0009257