Structural basal ganglia disorders
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
Manju Kurian (UCL-Institute of Child Health)
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Phenotypes
-
- Neurodegeneration with brain iron accumulation 3 606159
- OMIM
- 134790
- Clinvar variants
- Variants in FTL
- Penetrance
- Complete
- Panels with this gene
-
- Structural basal ganglia disorders
- Bilateral congenital or childhood onset cataracts
- Iron metabolism disorders - NOT common HFE mutations
- Early onset dystonia
- Adult onset neurodegenerative disorder
- Intellectual disability
- Early onset or syndromic epilepsy
- DDG2P
- Childhood onset dystonia, chorea or related movement disorder
- Parkinson Disease and Complex Parkinsonism
- Fetal anomalies
- Adult onset dystonia, chorea or related movement disorder
- Structural eye disease
History Filter Activity
16 Mar 2017, Gel status: 3
panel promoted to version 1
Sarah Leigh (Genomics England Curator)promoted 16/03/2017
7 Sep 2016, Gel status: 3
Added New Source
Sarah Leigh (Genomics England Curator)FTL was added to Structural basal ganglia disorderspanel. Source: Radboud University Medical Center, Nijmegen
7 Sep 2016, Gel status: 2
Added New Source
Sarah Leigh (Genomics England Curator)FTL was added to Structural basal ganglia disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services
7 Sep 2016, Gel status: 0
Created
Sarah Leigh (Genomics England Curator)FTL was created by sleigh
7 Sep 2016, Gel status: 1
Added New Source
Sarah Leigh (Genomics England Curator)FTL was added to Structural basal ganglia disorderspanel. Sources: UKGTN