1. Genes and Genomic Entities
  2. PET117

PET117

PET117 homolog
OMIM: 614771, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Amber PET117 in Mitochondrial disorder with complex IV deficiency


Version 3.21
Latest signed off version: v3.20 (1 May 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Mitochondrial complex IV deficiency, nuclear type 19, OMIM:619063
Amber PET117 in Likely inborn error of metabolism - targeted testing not possible


Version 5.3
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    • Expert Review Amber
    Phenotypes
    • Mitochondrial complex IV deficiency, nuclear type 19, OMIM:619063
    Amber PET117 in Possible mitochondrial disorder - nuclear genes


    Version 3.106
    Latest signed off version: v3.105 (1 May 2024)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • Mitochondrial complex IV deficiency, nuclear type 19, OMIM:619063
    Red PET117 in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 6.4
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Mitochondrial complex IV deficiency, nuclear type 19, OMIM:619063