Mitochondrial disorders

Gene: LIPT2

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 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.

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