PanelApp
  1. Genes and Genomic Entities
  2. PCCA

PCCA

propionyl-CoA carboxylase alpha subunit
OMIM: 232000, Gene2Phenotype

16 panels

Panel Reviews Mode of inheritance Details
16 panels

Green PCCA in Autism


Level 2: Neurology and neurodevelopmental disorders
Version 0.224

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green PCCA in Mendeliome


Version 1.3512

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Propionicacidaemia - MIM#606054
Tags
  • treatable

Green PCCA in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.267

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Propionicacidemia - MIM#606054
    Tags
    • treatable

    Green PCCA in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.565

    		0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green PCCA in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.594

    		0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Tags
    • treatable

    Green PCCA in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.410

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Propionicacidemia MIM#606054
    Tags
    • treatable

    Green PCCA in Dystonia - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.288

    Component of the following Super Panels:

  • Dystonia_Superpanel
  • Progressive Neurological Conditions
  • Tremors_Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Propionicacidemia, MIM# 606054
    Tags
    • treatable

    Green PCCA in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.110

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Propionicacidemia, 606054 (3)

    Green PCCA in Stroke


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.28

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Propionicacidemia 606054
    Tags
    • treatable

    Green PCCA in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 0.207

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

    Green PCCA in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Propionicacidemia

    Green PCCA in Hyperammonaemia


    Level 2: Metabolic disorders
    Version 0.10

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Propionicacidemia 606054
    Tags
    • treatable

    Green PCCA in Prepair 1000+


    Level 2: Screening
    Version 2.14

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Propionicacidemia, MIM#606054

    Green PCCA in Aminoacidopathy


    Level 2: Metabolic disorders
    Version 1.137

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • propionic acidemia MONDO:0011628
    Tags
    • treatable

    Green PCCA in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BabySeq Category A gene
    • BeginNGS
    Phenotypes
    • Propionic acidaemia, MIM#606054
    Tags
    • treatable
    • metabolic

    Green PCCA in Prepair 500+


    Level 2: Screening
    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Propionicacidaemia, MIM#606054