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Inborn errors of metabolism

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • non-alcoholic fatty liver disease
OMIM
606563
Clinvar variants
Variants in TM6SF2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: TM6SF2 was added gene: TM6SF2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: TM6SF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TM6SF2 were set to 28235613 Phenotypes for gene: TM6SF2 were set to non-alcoholic fatty liver disease