Early onset or syndromic epilepsy

Gene: LIPT2

I don't know

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

Red List (low evidence)

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

• 28757203

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.

I don't know

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

• 28757203

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