Early onset or syndromic epilepsy
Gene: FTL
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
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.
Source Wessex and West Midlands GLH was added to FTL.
Source NHS GMS was added to FTL.
Sarah Leigh: Comment on phenotypes: Monoall
Gene: ftl has been classified as Red List (Low Evidence).
Gene: ftl has been classified as Red List (Low Evidence).
Phenotypes for gene: FTL were set to L-ferritin deficiency, dominant and recessive 615604
Phenotypes for gene: FTL were set to L-ferritin deficiency, dominant and recessive 615604
Publications for gene: FTL were set to 23940258
Mode of inheritance for gene: FTL was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
FTL was added to Genetic Epilepsy Syndromes panel. Sources: Radboud University Medical Center, Nijmegen
FTL was created by Sarah Leigh