This Panel is marked as Internal
Dystonia - childhood onset
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
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Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Phenotypes
-
- Neurodegeneration with brain iron accumulation 3 606159
- OMIM
- 134790
- Clinvar variants
- Variants in FTL
- Penetrance
- None
- Panels with this gene
-
- Structural eye disease
- Fetal anomalies
- 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
- Bilateral congenital or childhood onset cataracts
- Adult onset neurodegenerative disorder
- Intellectual disability
- DDG2P
- Early onset or syndromic epilepsy
History Filter Activity
9 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: FTL was added gene: FTL was added to Dystonia - childhood onset. Sources: Expert Review Green Mode of inheritance for gene: FTL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FTL were set to Neurodegeneration with brain iron accumulation 3 606159