Likely inborn error of metabolism - targeted testing not possible
Gene: LIPT2
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
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.
Disease association reported at SSIEM 2015 ConferenceCreated: 29 Sep 2015, 8:22 a.m.
Variants in this GENE are reported as part of current diagnostic practice
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)
Sarah Leigh: Associated with phenotype in O
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