Metal Metabolism Disorders
Gene: FTL

FTL (ferritin light chain)
EnsemblGeneIds (GRCh38): ENSG00000087086
EnsemblGeneIds (GRCh37): ENSG00000087086
OMIM: 134790, Gene2Phenotype
FTL is in 12 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Well-established gene-disease association (see OMIM entry). Neuroferritinopathy is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders)
Created: 4 Feb 2021, 11:46 p.m. | Last Modified: 4 Feb 2021, 11:46 p.m.

Panel Version: 0.22

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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

Publications

7493028

Created: 4 Feb 2021, 11:46 p.m.
Last Modified: 4 Feb 2021, 11:46 p.m.
Panel version: 0.22

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
NHS Genomic Medicine Service
Genomics England PanelApp

Phenotypes

606159 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3
LFTD
NBIA3
615604 L-FERRITIN DEFICIENCY
HRFTC
606159 Neurodegeneration with brain iron accumulation 3
600886 HYPERFERRITINEMIA WITH OR WITHOUT CATARACT
600886 Hyperferritinemia-cataract syndrome
615604 L-ferritin deficiency, dominant and recessive

OMIM

134790

Clinvar variants

Variants in FTL

Penetrance

None

Publications

Panels with this gene

History Filter Activity

4 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ftl has been classified as Green List (High Evidence).

22 Jan 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FTL was added gene: FTL was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service Mode of inheritance for gene: FTL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FTL were set to 23940258; 18413574; 23421845; 19176363 Phenotypes for gene: FTL were set to 606159 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3; LFTD; NBIA3; 615604 L-FERRITIN DEFICIENCY; HRFTC; 606159 Neurodegeneration with brain iron accumulation 3; 600886 HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; 600886 Hyperferritinemia-cataract syndrome; 615604 L-ferritin deficiency, dominant and recessive

Metal Metabolism Disorders Gene: FTL