Genes in panel
STRs in panel
Prev Next

Genetic epilepsy syndromes

Gene: FTL

Red List (low evidence)

FTL (ferritin light chain)
EnsemblGeneIds (GRCh38): ENSG00000087086
EnsemblGeneIds (GRCh37): ENSG00000087086
OMIM: 134790, Gene2Phenotype
FTL is in 14 panels

3 reviews

Rebecca Foulger (Genomics England curator)

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

Tracy Lester (Genetics laboratory, Oxford UK)

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

Sarah Leigh (Genomics England Curator)

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.

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • L-ferritin deficiency, dominant and recessive 615604
OMIM
134790
Clinvar variants
Variants in FTL
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to FTL.

6 Aug 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to FTL.

11 Dec 2018, Gel status: 1

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Sarah Leigh: Comment on phenotypes: Monoall

26 Sep 2018, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: ftl has been classified as Red List (Low Evidence).

21 Jun 2018, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: ftl has been classified as Red List (Low Evidence).

21 Jun 2018, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: FTL were set to L-ferritin deficiency, dominant and recessive 615604

21 Jun 2018, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: FTL were set to L-ferritin deficiency, dominant and recessive 615604

21 Jun 2018, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: FTL were set to 23940258

21 Jun 2018, Gel status: 1

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: FTL was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

4 Apr 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

FTL was added to Genetic Epilepsy Syndromes panel. Sources: Radboud University Medical Center, Nijmegen

4 Apr 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

FTL was created by Sarah Leigh