Parkinson Disease and Complex Parkinsonism
Gene: FTLEnsemblGeneIds (GRCh38): ENSG00000087086
EnsemblGeneIds (GRCh37): ENSG00000087086
OMIM: 134790, Gene2Phenotype
FTL is in 13 panels
3 reviews
Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
neurodegeneration with brain iron accumulation
Ellen McDonagh (Genomics England Curator)
Comment on list classification: More than 3 cases/families reported on OMIM for association with Neurodegeneration with brain iron accumulation 3, which includes Parkinsonism as a phenotype.Created: 2 Nov 2016, 5:20 p.m.
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 Review Green
- Expert
- Phenotypes
-
- Neurodegeneration with brain iron accumulation 3
- movement disorder
- OMIM
- 134790
- Clinvar variants
- Variants in FTL
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Fetal anomalies
- Bilateral congenital or childhood onset cataracts
- Adult onset neurodegenerative disorder
- Structural basal ganglia disorders
- Parkinson Disease and Complex Parkinsonism
- Intellectual disability
- Early onset dystonia
- Early onset or syndromic epilepsy
- Adult onset dystonia, chorea or related movement disorder
- Iron metabolism disorders - NOT common HFE mutations
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Structural eye disease
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)19th Dec 2016: panel revised according to expert review and further curation.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for FTL were set to 24209436; http://www.ncbi.nlm.nih.gov/pubmed/24209436
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for FTL were set to Neurodegeneration with brain iron accumulation 3; movement disorder
Set publications
Ellen McDonagh (Genomics England Curator)Publications for FTL were set to 24209436
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Created
Ellen McDonagh (Genomics England Curator)FTL was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)FTL was added to Parkinson Disease and Complex Parkinsonismpanel. Sources: Expert