TMEM65

transmembrane protein 65
OMIM: 616609, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Amber TMEM65 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
    • TMEM65 related mitochondrial encephalopmyopathy
    Amber TMEM65 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
    • No OMIM phenotype
    Amber TMEM65 in Fetal anomalies


    Version 4.1
    Latest signed off version: v4.0 (1 May 2024)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    Phenotypes
    • TMEM65 related mitochondrial encephalopmyopathy
    Amber TMEM65 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 Amber
    • NHS GMS
    Phenotypes
    • No OMIM phenotype