Bilateral congenital or childhood onset cataracts
Gene: FTLEnsemblGeneIds (GRCh38): ENSG00000087086
EnsemblGeneIds (GRCh37): ENSG00000087086
OMIM: 134790, Gene2Phenotype
FTL is in 13 panels
2 reviews
Sarah Waller (Manchester Centre for Genomic Medicine)
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)
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
-
- Childhood onset dystonia, chorea or related movement disorder
- Structural basal ganglia disorders
- Parkinson Disease and Complex Parkinsonism
- Adult onset dystonia, chorea or related movement disorder
- Early onset dystonia
- Early onset or syndromic epilepsy
- DDG2P
- Structural eye disease
- Iron metabolism disorders - NOT common HFE mutations
- Intellectual disability
- Fetal anomalies
- Adult onset neurodegenerative disorder
- Bilateral congenital or childhood onset cataracts
History Filter Activity
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for FTL were set to Hyperferritinemia-cataract syndrome, 600886; Hyperferritinemia Cataract Syndrome;HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME
Added New Source
GEL ()FTL was added to Cataractspanel. Sources: Illumina TruGenome Clinical Sequencing Services
Added New Source
GEL ()FTL was added to Cataractspanel. Sources: Radboud University Medical Center, Nijmegen
Added New Source
GEL ()FTL was added to Cataractspanel. Sources: UKGTN