COASY

Coenzyme A synthase
OMIM: 609855, Gene2Phenotype

15 panels

Panel Reviews Mode of inheritance Details
15 panels

Green COASY in Early onset dystonia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.81

Component of the following Super Panels:

  • Merge for Neurodegenerative disorders - adult onset v1.174
  • Merge for Dystonia - childhood onset v1.27
  • Merge for Adult onset movement disorder v0.19
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Neurodegeneration with brain iron accumulation 6
    • COASY protein-associated neurodegeneration

    Amber COASY in Ataxia and cerebellar anomalies - narrow panel


    Version 1.7

    Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset v3.406
  • Cerebral malformations v3.1
  • TEST_Panel_update_Hereditary ataxia and cerebellar anomalies - childhood onset v1.3
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    Phenotypes
    • Severe prenatal onset pontocerebellar hypoplasia, microcephaly, arthrogryposis

    Green COASY in Structural basal ganglia disorders

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.17

    Component of the following Super Panels:

  • Merge for Dystonia - childhood onset v1.27
  • Merge for Adult onset movement disorder v0.19
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodegeneration with brain iron accumulation 6 615643

    Green COASY in Dystonia - childhood onset


    Version 1.8

    Component of the following Super Panels:

  • Movement disorders - childhood onset v4.390
  • TEST_Panel_update_Movement disorders - childhood onset v1.2
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • COASY protein-associated neurodegeneration
    • Neurodegeneration with brain iron accumulation 6 615643

    Amber COASY in Arthrogryposis

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.46

    Component of the following Super Panels:

  • Arthrogryposis - broad panel v2.18
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Severe prenatal onset pontocerebellar hypoplasia, microcephaly, arthrogryposis
    Tags
    • watchlist

    Amber COASY in Severe microcephaly

    Level 3: DNA repair disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.74

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Amber
    • Literature
    Phenotypes
    • Severe prenatal onset pontocerebellar hypoplasia, microcephaly, arthrogryposis
    Tags
    • watchlist

    Amber COASY in Cerebellar hypoplasia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.39

    Component of the following Super Panels:

  • Merge for Ataxia and cerebellar anomalies - narrow panel v1.67
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Severe prenatal onset pontocerebellar hypoplasia, microcephaly, arthrogryposis
    Tags
    • watchlist

    Green COASY in Neurodegenerative disorders - adult onset


    Version 1.107

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    • Expert Review Green
    Phenotypes
    • COASY protein-associated neurodegeneration
    • Neurodegeneration with brain iron accumulation 6

    Red COASY in Possible mitochondrial disorder - nuclear genes


    Version 1.12

    Component of the following Super Panels:

  • GMS Mitochondrial super panel v9.12
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Pontocerebellar hypoplasia, type 12, 618266
    • Neurodegeneration with brain iron accumulation 6, 615643

    Green COASY in Fetal anomalies


    Version 0.346

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • NEURODEGENERATION WITH BRAIN IRON ACCUMULATION

    Green COASY in DDG2P


    Version 1.148

    Component of the following Super Panels:

  • Paediatric disorders v4.354
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • NEURODEGENERATION WITH BRAIN IRON ACCUMULATION

    Green COASY in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.1098

    Component of the following Super Panels:

  • Paediatric disorders v4.354
  • White matter disorders - childhood onset v4.202
  • Hypotonic infant with a likely central cause v3.1022
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • Neurodegeneration with brain iron accumulation 6, 615643

    Red COASY in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 2.2

    Component of the following Super Panels:

  • Merge for Molecular autopsy v5.144
  • White matter disorders - childhood onset v4.202
  • Merge for Cardiomyopathies - including childhood onset v3.166
  • Merge for inborn errors of metabolism v2.99
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • NHS GMS
    Phenotypes
    • Neurodegeneration with brain iron accumulation 6, 615643
    • Pontocerebellar hypoplasia, type 12, 618266

    Green COASY in Hereditary ataxia - adult onset


    Version 1.211

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Wessex and West Midlands GLH
    Phenotypes
    • Pontocerebellar hypoplasia type 12, 618266
    • Neurodegeneration with brain iron accumulation 6, 615643

    Red COASY in Adult onset movement disorder


    Version 0.130

    Component of the following Super Panels:

  • TEST - Superpanel v2.5
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • NHS GMS
    • London North GLH
    Phenotypes
    • COASY protein-associated neurodegeneration
    • Neurodegeneration with brain iron accumulation 6
    • Neurodegeneration with brain iron accumulation 6 615643