PCCA

propionyl-CoA carboxylase alpha subunit
OMIM: 232000, Gene2Phenotype

13 panels

Panel Reviews Mode of inheritance Details
13 panels

Green PCCA in Ketotic hypoglycaemia

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.7

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections
  • Propionicacidemia
  • Propionic acidemia

Green PCCA in Hyperammonaemia

Level 3: Urea Cycle disorders
Level 2: Metabolic disorders
Version 1.13

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Emory Genetics Laboratory
Phenotypes
  • Propionicacidemia 606054

Green PCCA in Structural basal ganglia disorders

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.32

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Propionicacidemia 606054

Green PCCA in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.542

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Propionic aciduria (Organic acidurias)
  • metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections
  • Propionicacidemia
  • Propionic acidemia
  • Propionicacidemia 606054

Green PCCA in Inborn errors of metabolism


Version 2.263
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
    • Propionicacidemia
    • Propionic acidemia
    • Propionicacidemia 606054
    • metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections
    • Propionic aciduria (Organic acidurias)

    Red PCCA in Fetal anomalies


    Version 1.900
    Latest signed off version: v1.92 (21 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • PROPIONIC ACIDEMIA

    Green PCCA in DDG2P


    Version 2.76
    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
    • PROPIONIC ACIDEMIA 606054

    Green PCCA in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.563
    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
    • Propionicacidemia 606054

    Green PCCA in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1659
    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
    Phenotypes
    • PROPIONIC ACIDEMIA

    Red PCCA in Adult onset movement disorder


    Version 1.170
    Latest signed off version: v1.121 (5 Aug 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • NHS GMS
    • London North GLH
    Phenotypes
    • Propionicacidemia

    Green PCCA in Cardiomyopathies - including childhood onset


    Version 1.76
    Latest signed off version: v1.4 (19 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • South West GLH
    • MetBioNet
    • Expert Review Green
    • MetBioNet
    • South West GLH
    • Expert Review Green
    Phenotypes
    • DCM
    • Hypertrophic-hypocontractile cardiomyopathy
    • Dehydration, hepatomegaly, lethargy, coma, acidosis, high anion gap
    • Propionicacidemia
    • Propionic aciduria
    • Propionicacidemia 606054
    • Propionic acidemia
    • Propionic aciduria (Organic acidurias)
    • metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections

    Green PCCA in Childhood onset dystonia or chorea or related movement disorder


    Version 1.241
    Latest signed off version: v1.137 (5 Aug 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PanelApp
    • Expert Review Green
    • London North GLH
    Phenotypes
    • Propionicacidemia 606054

    Green PCCA in Severe Paediatric Disorders


    Version 1.127

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Propionicacidemia, 606054