PAH

phenylalanine hydroxylase
OMIM: 612349, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green PAH in White matter disorders - adult onset


Version 1.10
Latest signed off version: v1.6 (15 Oct 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • Phenylketonuria, [Hyperphenylalaninemia, non-PKU mild], 261600

Red PAH in Autism


Version 0.22

review Not set
Sources
  • Expert Review Red
  • SFARI

Green PAH in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.457

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Literature
Phenotypes
  • Phenylketonuria 261600
  • [Hyperphenylalaninemia, non-PKU mild] 261600

Green PAH in Inborn errors of metabolism


Version 2.134
Latest signed off version: v2.3 (17 Feb 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Phenylketonuria

    Red PAH in Fetal anomalies


    Version 1.649
    Latest signed off version: v1.92 (21 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • PHENYLKETONURIA
    • NON-PHENYLKETONURIA HYPERPHENYLALANINEMIA

    Green PAH in DDG2P


    Version 2.27
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • NON-PHENYLKETONURIA HYPERPHENYLALANINEMIA 261600
    • PHENYLKETONURIA 261600

    Green PAH in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.345
    Latest signed off version: v2.2 (13 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Phenylketonuria 261600

    Green PAH in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1075
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Phenylketonuria, 261600[Hyperphenylalaninemia, non-PKU mild], 261600
    • NON-PHENYLKETONURIA HYPERPHENYLALANINEMIA (NON-PKU HPA)

    Red PAH in Childhood onset dystonia or chorea or related movement disorder


    Version 1.103
    Latest signed off version: v1.58 (6 Oct 2020)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH

    Green PAH in Severe Paediatric Disorders


    Version 1.77

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Phenylketonuria, 261600