Genomics England
GMS Panels
Panels
Genes and Entities

PAH

phenylalanine hydroxylase
OMIM: 612349
PanelMode of inheritanceDetails
6 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
NON-PHENYLKETONURIA HYPERPHENYLALANINEMIA 261600, PHENYLKETONURIA 261600
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
Signed-off version 9.56
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Phenylketonuria 261600
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
Signed-off version 11.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Phenylketonuria, 261600[Hyperphenylalaninemia, non-PKU mild], 261600, NON-PHENYLKETONURIA HYPERPHENYLALANINEMIA (NON-PKU HPA)
Green
in Leukodystrophy, adult onset
R-numbers: R62
Signed-off version 7.8
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Phenylketonuria, [Hyperphenylalaninemia, non-PKU mild], 261600
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 9.29
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Phenylketonuria
Green
in Phenylketonuria
R-numbers: R283
Signed-off version 1.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Phenylketonuria, OMIM:261600, phenylketonuria, MONDO:0009861