Pyruvate dehydrogenase (PDH) deficiency

Gene: LIPT2

Green List (high evidence)

Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group. Gene Symbol submitted: LIPT2; Suggested intial gene rating: Green; Information provided: Mode of inheritance, phenotype and publication.

Created: 1 Feb 2019, 2:42 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES, 617668

Publications

• 28757203
• 28803783

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

• 28757203

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

I don't know

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 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, 4:15 p.m.

Gene added during review by Carl Fratter (Oxford University Hospitals NHS Trust).

Created: 13 Nov 2015, 3:10 p.m.

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