PCBD1

pterin-4 alpha-carbinolamine dehydratase 1
OMIM: 126090, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Red PCBD1 in Diabetes with additional phenotypes suggestive of a monogenic aetiology

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.63

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert Review

Green PCBD1 in Familial diabetes

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.63

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Expert Review
Phenotypes
  • Hyperphenylalaninemia, BH4-deficient, D 264070

Green PCBD1 in Monogenic diabetes


Version 2.43
Latest signed off version: v2.2 (25 Feb 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Hyperphenylalaninemia, BH4-deficient, D, OMIM:264070

Green PCBD1 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.488

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Literature
Phenotypes
  • Hyperphenylalaninemia, BH4-deficient, D 264070

Green PCBD1 in Inborn errors of metabolism


Version 2.190
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
    • Hyperphenylalaninemia, BH4-deficient, D

    Red PCBD1 in Fetal anomalies


    Version 1.749
    Latest signed off version: v1.92 (21 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D

    Green PCBD1 in DDG2P


    Version 2.50
    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
    • HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D 264070

    Red PCBD1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1396
    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
    • Expert Review Red
    Phenotypes
    • HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D

    Red PCBD1 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.162
    Latest signed off version: v1.137 (5 Aug 2021)

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

    Green PCBD1 in Severe Paediatric Disorders


    Version 1.84

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Hyperphenylalaninemia, BH4-deficient, D, 264070