Cataracts

Gene: FTL

Green List (high evidence)

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

2 reviews

Sarah Waller (Manchester Centre for Genomic Medicine)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Hyperferritinemia-cataract syndrome, 600886; Hyperferritinemia Cataract Syndrome

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

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

It is on the on the Manchester congenital cataracts gene panel. A confirmed DD gene for HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME. Associated with Hyperferritinemia-cataract syndrome in OMIM.
Created: 22 Apr 2016, 5:10 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Hyperferritinemia-cataract syndrome, 600886
  • Hyperferritinemia Cataract Syndrome
  • HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME
OMIM
134790
Clinvar variants
Variants in FTL
Penetrance
Complete
Panels with this gene

History Filter Activity

14 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

14 Jun 2016, Gel status: 3

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for FTL were set to Hyperferritinemia-cataract syndrome, 600886; Hyperferritinemia Cataract Syndrome;HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME

28 Apr 2015, Gel status: 3

Added New Source

GEL ()

FTL was added to Cataractspanel. Sources: Illumina TruGenome Clinical Sequencing Services

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

FTL was added to Cataractspanel. Sources: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

FTL was added to Cataractspanel. Sources: UKGTN