Genomics England
GMS Panels
Panels
Genes and Entities

OTC

ornithine carbamoyltransferase
OMIM: 300461
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, biallelic mutations in females
Phenotypes
ORNITHINE TRANSCARBAMYLASE DEFICIENCY 311250
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, biallelic mutations in females
Phenotypes
CGD Ornithine transcarbamylase deficiency, 311250, ORNITHINE TRANSCARBAMYLASE DEFICIENCY
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 4.78
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Ornithine transcarbamylase deficiency, 311250, Ornithine transcarbamylase deficiency (Urea cycle disorders and inherited hyperammonaemias)