This Panel is marked as Internal
Complex Parkinsonism (includes pallido-pyramidal syndromes)
Gene: FTL
FTL (ferritin light chain)
EnsemblGeneIds (GRCh38): ENSG00000087086
EnsemblGeneIds (GRCh37): ENSG00000087086
OMIM: 134790, Gene2Phenotype
FTL is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000087086
EnsemblGeneIds (GRCh37): ENSG00000087086
OMIM: 134790, Gene2Phenotype
FTL is in 13 panels
1 review
alisdair mcneill (Sheffield childrens hospital)
can rarely cause parkinsonism, often had other movement disorder in additionCreated: 29 Jun 2016, 7:15 p.m.
Phenotypes
NBIA; movement disorder
Publications
- http://www.ncbi.nlm.nih.gov/pubmed/24209436
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert
- OMIM
- 134790
- Clinvar variants
- Variants in FTL
- Penetrance
- Complete
- Panels with this gene
-
- Structural basal ganglia disorders
- Parkinson Disease and Complex Parkinsonism
- Early onset dystonia
- Childhood onset dystonia, chorea or related movement disorder
- Intellectual disability
- Bilateral congenital or childhood onset cataracts
- Early onset or syndromic epilepsy
- Adult onset dystonia, chorea or related movement disorder
- Iron metabolism disorders - NOT common HFE mutations
- Adult onset neurodegenerative disorder
- Fetal anomalies
- DDG2P
- Structural eye disease
History Filter Activity
24 Jul 2015, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)FTL was added to Complex Parkinsonism (includes pallido-pyramidal syndromes)panel. Sources: Expert