1. Genes and Genomic Entities
  2. TM6SF2

TM6SF2

transmembrane 6 superfamily member 2
OMIM: 606563, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Red TM6SF2 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
Phenotypes
  • non-alcoholic fatty liver disease
Red TM6SF2 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 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    Phenotypes
    • non-alcoholic fatty liver disease