Adult onset dystonia, chorea or related movement disorder
Gene: FTLEnsemblGeneIds (GRCh38): ENSG00000087086
EnsemblGeneIds (GRCh37): ENSG00000087086
OMIM: 134790, Gene2Phenotype
FTL is in 13 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Review and rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 1:19 p.m.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- London North GLH
- Expert Review Green
- Phenotypes
-
- Neurodegeneration with brain iron accumulation 3, OMIM:606159
- OMIM
- 134790
- Clinvar variants
- Variants in FTL
- Penetrance
- None
- Publications
- Panels with this gene
-
- Bilateral congenital or childhood onset cataracts
- Structural basal ganglia disorders
- Parkinson Disease and Complex Parkinsonism
- Early onset dystonia
- Childhood onset dystonia, chorea or related movement disorder
- Adult onset dystonia, chorea or related movement disorder
- Iron metabolism disorders - NOT common HFE mutations
- Early onset or syndromic epilepsy
- Structural eye disease
- Adult onset neurodegenerative disorder
- Intellectual disability
- Fetal anomalies
- DDG2P
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: FTL were changed from Neurodegeneration with brain iron accumulation 3 606159; movement disorder to Neurodegeneration with brain iron accumulation 3, OMIM:606159
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: FTL were set to http://www.ncbi.nlm.nih.gov/pubmed/24209436; 24209436
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to FTL.
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GLH was added to FTL.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: FTL was added gene: FTL was added to Adult onset movement disorder. Sources: Expert Review Green Mode of inheritance for gene: FTL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FTL were set to http://www.ncbi.nlm.nih.gov/pubmed/24209436; 24209436 Phenotypes for gene: FTL were set to Neurodegeneration with brain iron accumulation 3 606159; movement disorder