Mitochondrial disorders
Gene: LIPT1

LIPT1 (lipoyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000144182
EnsemblGeneIds (GRCh37): ENSG00000144182
OMIM: 610284, Gene2Phenotype
LIPT1 is in 10 panels

3 reviews

Carl Fratter (Oxford University Hospitals NHS Trust)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Variants in this GENE are reported as part of current diagnostic practice

Created: 5 Nov 2017, 2:38 a.m.

Panel version: 0

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Confirmed on OMIM.
Created: 10 Feb 2016, 12:36 p.m.

Comment on list classification: Both reviewers agree this gene should be promoted from red to green.

Created: 10 Feb 2016, 12:35 p.m.

Created: 10 Feb 2016, 12:35 p.m.

Panel version: 0.182

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Created: 8 Feb 2016, 10:31 a.m.

Panel version: 0.37

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Victorian Clinical Genetics Services
Expert Review Green
Radboud University Medical Center, Nijmegen
Expert

Phenotypes

Lipoyltransferase 1 deficiency

OMIM

610284

Clinvar variants

Variants in LIPT1

Penetrance

Complete

Panels with this gene

History Filter Activity

28 Aug 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to LIPT1. Panel: Mitochondrial disorders

10 Feb 2016, Gel status: 4