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  2. Undiagnosed metabolic disorders
  3. TM6SF2
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Undiagnosed metabolic disorders

Gene: TM6SF2

Red List (low evidence)
TM6SF2 (transmembrane 6 superfamily member 2)
EnsemblGeneIds (GRCh38): ENSG00000213996
EnsemblGeneIds (GRCh37): ENSG00000213996
OMIM: 606563, Gene2Phenotype
TM6SF2 is in 2 panels

1 review

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Hepatic lipid synthesis from PUFAs is impaired and could contribute to deficiency in PCs and increased intrahepatic TG in TM6SF2 p.E167K variant carriers.
Created: 2 May 2017, 2:44 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
non-alcoholic fatty liver disease

Publications

Created: 2 May 2017, 2:44 p.m.

Panel version: 1.42

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
Phenotypes
  • non-alcoholic fatty liver disease
OMIM
606563
Clinvar variants
Variants in TM6SF2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

2 May 2017, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

TM6SF2 was added to Undiagnosed metabolic disorderspanel. Sources: Literature

2 May 2017, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

TM6SF2 was created by sleigh