Genomics England
GMS Panels
Panels
Genes and Entities

ST3GAL3

ST3 beta-galactoside alpha-2,3-sialyltransferase 3
OMIM: 606494
PanelMode of inheritanceDetails
2 panels
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
Developmental and epileptic encephalopathy 15, OMIM:615006, developmental and epileptic encephalopathy, 15, MONDO:0014003, Intellectual developmental disorder, autosomal recessive 12, OMIM:611090, intellectual disability, autosomal recessive 12, MONDO:0012612
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
Developmental and epileptic encephalopathy 15, OMIM:615006, developmental and epileptic encephalopathy, 15, MONDO:0014003, Intellectual developmental disorder, autosomal recessive 12, OMIM:611090, intellectual disability, autosomal recessive 12, MONDO:0012612