Genomics England
GMS Panels
Panels
Genes and Entities

OAT

ornithine aminotransferase
OMIM: 613349
PanelMode of inheritanceDetails
2 panels
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
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ornithine aminotransferase deficiency (Disorders of ornithine or proline metabolism), Gyrate atrophy of choroid and retina with or without ornithinemia
Green
in Retinal disorders
R-numbers: R32
Signed-off version 4.42
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Eye Disorders