COX4I2

cytochrome c oxidase subunit 4I2
OMIM: 607976, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Amber COX4I2 in Cytopenias and congenital anaemias

Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.87

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, andCalvarial Hyperostosis
  • Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714

Green COX4I2 in Rare anaemia


Version 1.24
Latest signed off version: v1.2 (3 Mar 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • North West GLH
  • Yorkshire and North East GLH
  • London South GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • 612714 Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis
  • Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714
  • 612714 Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis
  • Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, andCalvarial Hyperostosis
  • Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis
  • Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis
Tags
  • for-review

Amber COX4I2 in Mitochondrial disorder with complex IV deficiency


Version 1.12
Latest signed off version: v1.2 (17 Feb 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714

Amber COX4I2 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.469

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis 612714

Amber COX4I2 in Inborn errors of metabolism


Version 2.154
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
    • Expert Review Amber
    • London North GLH
    • NHS GMS
    • Victorian Clinical Genetics Services
    Phenotypes
    • Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis 612714

    Amber COX4I2 in Possible mitochondrial disorder - nuclear genes


    Version 1.49
    Latest signed off version: v1.17 (11 Nov 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714

    Red COX4I2 in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 2.47
    Latest signed off version: v2.4 (17 Feb 2020)

    Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Red
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • Expert
    Phenotypes
    • Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714
    • Mitochondrial Diseases