COA8

cytochrome c oxidase assembly factor 8
OMIM: 616003, ClinGen, DECIPHER

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green COA8 in Mendeliome


Version 2.50

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial complex IV deficiency, nuclear type 17, MIM#619061

Green COA8 in Mitochondrial disease


Level 2: Metabolic disorders
Version 2.0

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Mitochondrial Flagship
    Phenotypes
    • Mitochondrial complex IV deficiency, nuclear type 17, MIM#619061

    Green COA8 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.1

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Mitochondrial complex IV deficiency, nuclear type 17, MIM#619061

    Green COA8 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.8

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Mitochondrial complex IV deficiency, nuclear type 17, MIM#619061

    Green COA8 in Leukodystrophy


    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
    • Expert Review Green
    • Expert list
    Phenotypes
    • Mitochondrial complex IV deficiency, MIM# 220110

    Green COA8 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 1.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Mitochondrial complex IV deficiency, 220110 (3)
    Tags
    • new gene name

    Red COA8 in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 1.0

    0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • MetBioNet
    • Expert Review Red
    • NHS GMS
    Phenotypes
    • Mitochondrial complex IV deficiency, 220110

    Red COA8 in Fetal anomalies


    Version 2.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Mitochondrial complex IV deficiency, nuclear type 17, MIM#619061

    Green COA8 in Prepair 1000+


    Level 2: Screening
    Version 3.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Mitochondrial complex IV deficiency, MIM#220110
    Tags
    • new gene name