Genomics England
GMS Panels
Panels
Genes and Entities

ALG13

ALG13, UDP-N-acetylglucosaminyltransferase subunit
OMIM: 300776
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.79
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
EPILEPTIC ENCEPHALOPATHY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IS 300884, EPILEPTIC ENCEPHALOPATHIES.
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 4.134
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Congenital disorder of glycosylation, type Is, Infantile spasms and LGS
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.343
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
EPILEPTIC ENCEPHALOPATHIES.