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  2. Likely inborn error of metabolism
  3. LIPT2
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Likely inborn error of metabolism

Gene: LIPT2

Green List (high evidence)
LIPT2 (lipoyl(octanoyl) transferase 2)
EnsemblGeneIds (GRCh38): ENSG00000175536
EnsemblGeneIds (GRCh37): ENSG00000175536
OMIM: 617659, Gene2Phenotype
LIPT2 is in 8 panels

4 reviews

Zornitza Stark (Australian Genomics)

I don't know

Three patients from two families reported in the literature with bi-allelic variants in this gene. Consider Amber rating.
Created: 30 Aug 2018, 6:03 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, MIM#617668

Publications

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

Created: 30 Aug 2018, 6:03 a.m.

Panel version: Imported from Mitochondrial disorders panel version 1.67

Shamima Rahman (UCL Institute of Child Health)

I don't know

Created: 3 Feb 2016, 4:27 p.m.

Panel version: Imported from Mitochondrial disorders panel version 0.16

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Confirmed on the NHSE GMS Mitochondrial Specialist Group Meeting call on 25th February 2019 that this gene should be Green. 3 patients (2 are siblings) reported with biallelic variants in this gene and severe neonatal encephalopathy, with functional evidence supporting a mitochondrial lipoylation defect as well as this protein being in the same pathway as LIPT1.
Created: 25 Feb 2019, 4:20 p.m.
Gene added during review by Carl Fratter (Oxford University Hospitals NHS Trust).
Created: 13 Nov 2015, 3:10 p.m.
Created: 13 Nov 2015, 3:10 p.m.

Panel version: Imported from Mitochondrial disorders panel version 0

Carl Fratter (Oxford University Hospitals NHS Trust)

I don't know

Disease association reported at SSIEM 2015 Conference
Created: 29 Sep 2015, 8:22 a.m.

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

Created: 29 Sep 2015, 8:22 a.m.

Panel version: Imported from Mitochondrial disorders panel version 0

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, 617668
OMIM
617659
Clinvar variants
Variants in LIPT2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source, Set Phenotypes, Set publications, Status Update

Sarah Leigh (Genomics England Curator)

Source Expert Review Green was added to LIPT2. Added phenotypes Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, 617668 for gene: LIPT2 Publications for gene LIPT2 were changed from to 28803783; 28757203 Rating Changed from Red List (low evidence) to Green List (high evidence)

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

Ellen McDonagh (Genomics England Curator)

gene: LIPT2 was added gene: LIPT2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: LIPT2 was set to BIALLELIC, autosomal or pseudoautosomal