Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.79 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes ORNITHINE TRANSCARBAMYLASE DEFICIENCY 311250 |
Green in Intellectual disabilityComponent of the following Super Panels:
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 |
Component of the following Super Panels:
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) |