PAH

phenylalanine hydroxylase
OMIM: 612349
PanelMode of inheritanceDetails
6 panels
R-numbers: R62
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Phenylketonuria, [Hyperphenylalaninemia, non-PKU mild], 261600
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
NON-PHENYLKETONURIA HYPERPHENYLALANINEMIA 261600, PHENYLKETONURIA 261600
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Phenylketonuria 261600
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Phenylketonuria, 261600[Hyperphenylalaninemia, non-PKU mild], 261600, NON-PHENYLKETONURIA HYPERPHENYLALANINEMIA (NON-PKU HPA)
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 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Phenylketonuria
R-numbers: R283
Signed-off version 1.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes