Genomics England
GMS Panels
Panels
Genes and Entities

GALT

galactose-1-phosphate uridylyltransferase
OMIM: 606999
PanelMode of inheritanceDetails
6 panels
Green
in Bilateral congenital or childhood onset cataracts
R-numbers: R31
Signed-off version 8.5
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Galactosemia, OMIM:230400
Green
in Cholestasis
R-numbers: R171
Signed-off version 4.17
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Galactosemia, OMIM:230400, MONDO:0018116
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GALACTOSEMIA 230400
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Galactosemia, OMIM:230400
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
Signed-off version 11.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Galactosemia, OMIM:230400
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 9.29
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Galactosemia, OMIM:230400