GALT

galactose-1-phosphate uridylyltransferase
OMIM: 606999
PanelMode of inheritanceDetails
4 panels
Green
in Cataracts
R-numbers: R31
Signed-off version 2.76
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Confirmed DD gene for galactosemia
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GALACTOSEMIA 230400
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Intellectual disability, Classical galactosaemia (Disorders of galactose metabolism), Galactosemia, Cataracts
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Galactosemia, 230400, GALACTOSEMIA (GALCT)