PanelApp (staging)
  1. Genes and Genomic Entities
  2. COASY

COASY

Coenzyme A synthase
OMIM: 609855, ClinGen, DECIPHER

13 panels

Panel Reviews Mode of inheritance Details
13 panels

Amber COASY in Early-onset Parkinson disease


Level 2: Neurology and neurodevelopmental disorders
Version 2.10

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions
  • Tremors_Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Melbourne Genomics Health Alliance Complex Neurology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Neurodegeneration with brain iron accumulation 6, MIM# 615643

    Green COASY in Arthrogryposis


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.416

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Pontocerebellar hypoplasia
    • microcephaly
    • arthrogryposis

    Red COASY in Brain Calcification


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.99

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Neurodegeneration with brain iron accumulation 6, MIM# 615643

    Green COASY in Cerebellar and Pontocerebellar Hypoplasia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.78

    		3 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Neurodegeneration with brain iron accumulation 6 615643
    • Pontocerebellar hypoplasia, type 12 618266

    Green COASY in Mendeliome


    Version 1.2302

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Neurodegeneration with brain iron accumulation 6 MIM#615643
    • Pontocerebellar hypoplasia, type 12 MIM#v618266

    Green COASY in Microcephaly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.295

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Pontocerebellar hypoplasia, type 12, MIM#618266

    Green COASY in Mitochondrial disease


    Level 2: Metabolic disorders
    Version 0.969

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Literature
    • NHS GMS
    Phenotypes
    • Neurodegeneration with brain iron accumulation 6 MIM#615643
    • Pontocerebellar hypoplasia, type 12 MIM#618266

    Green COASY in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.572

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

    Green COASY in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.63

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Neurodegeneration with brain iron accumulation 6 615643
    • Pontocerebellar hypoplasia, type 12 618266

    Green COASY in Dystonia - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.272

    Component of the following Super Panels:

  • Dystonia_Superpanel
  • Progressive Neurological Conditions
  • Tremors_Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • neurodegeneration with brain iron accumulation 6, MONDO:0014290
    • Neurodegeneration with brain iron accumulation 6 615643

    Green COASY in Neurodegeneration with brain iron accumulation


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.0

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • GeneReviews
    • Expert Review Green
    Phenotypes
    • OMIM 618266)
    • COASY protein-associated neurodegeneration (CoPAN

    Green COASY in Fetal anomalies


    Version 1.313

    		4 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Literature
    • Expert list
    Phenotypes
    • Pontocerebellar hypoplasia
    • microcephaly
    • arthrogryposis

    Green COASY in Vitamin metabolism disorders


    Level 2: Metabolic disorders
    Version 1.7

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • neurodegeneration with brain iron accumulation 6 MONDO:0014290
    • Disorders of pantothenate and CoA metabolism