OTC

ornithine carbamoyltransferase
OMIM: 300461
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
ORNITHINE TRANSCARBAMYLASE DEFICIENCY 311250
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
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)
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
CGD Ornithine transcarbamylase deficiency, 311250, ORNITHINE TRANSCARBAMYLASE DEFICIENCY