Early onset or syndromic epilepsy
Gene: LIPT2
Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: Alison Callaway and John Taylor. Suggested gene rating: Red.Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
There are very few variants reported to be disease causing in LIPT2, and all have come from the same source publication, PMID 28757203. The associated phenotype is severe and includes seizures/epilepsy.Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Encephalopathy neonatal severe with lactic acidosis and brain abnormalities, 617668
Publications
Comment when marking as ready: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 2 variants reported in one case
in which seizures are a phenotypic feature.Created: 6 Dec 2018, 4:03 p.m.
3 individuals from 2 families described in the literature with bi-allelic variants in this gene. Seizures are part of the phenotype.Created: 16 Aug 2018, 11:33 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
Source Wessex and West Midlands GLH was added to LIPT2.
Source NHS GMS was added to LIPT2.
Zornitza Stark: 3 individuals from 2 families
Gene: lipt2 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: LIPT2 were changed from to Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities 617668
Mode of inheritance for gene: LIPT2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LIPT2 were set to
Tag watchlist tag was added to gene: LIPT2.
Expert Review Amber was added to LIPT2. Panel: Genetic Epilepsy Syndromes
LIPT2 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
LIPT2 was created by Sarah Leigh