Early onset or syndromic epilepsy

Gene: FTL

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: John Taylor and Helen Lord. 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)

should be screened via a different panel. AD neurodegeneration with brain iron accum 3 and AD hyperferritinemia-cataract syndrome. Epilepsy/seizures not a listed feature in OMIM. Looked on panel app - ref Cozzi et al, 2013 - truncating variant in a single case with childhood epilepsy, mild cognitive impairment and restless legs syndrome but no haematological signs. Chose to test FTL as had undetectable serum ferritin levels.

Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.

Panel Version: 1.188

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hyperferritinemia-cataract syndrome, 600886 ; L-ferritin deficiency, dominant and recessive, 615604 ; Neurodegeneration with brain iron accumulation 3, 606159

Comment on list classification: Associated with phenotype in OMIM and not in Gen2Phen. A truncating variant reported in a single case with childhood generalized epilepsy, mild cognitive impairment, alopecia, and restless legs syndrome, but no hematologic abnormalities. The FTL gene was chosen for sequencing because the patient had undetectable serum ferritin levels (PMID 23940258)

Created: 21 Jun 2018, 9:43 a.m.

Comment on phenotypes: Monoallelic variants also associated with Hyperferritinemia-cataract syndrome 600886 and Neurodegeneration with brain iron accumulation 3 606159, which do not display feature of epilepsy.

Created: 21 Jun 2018, 9:39 a.m.