Possible mitochondrial disorder - nuclear genes
Gene: LIPT2
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.Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES, 617668
Publications
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
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
gene: LIPT2 was added gene: LIPT2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: LIPT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LIPT2 were set to 28757203; 28803783 Phenotypes for gene: LIPT2 were set to ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES, 617668