Neurodegeneration with brain iron accumulation
Gene: FTL
FTL (ferritin light chain)
EnsemblGeneIds (GRCh38): ENSG00000087086
EnsemblGeneIds (GRCh37): ENSG00000087086
OMIM: 134790, Gene2Phenotype
FTL is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000087086
EnsemblGeneIds (GRCh37): ENSG00000087086
OMIM: 134790, Gene2Phenotype
FTL is in 12 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Established gene disease association with reported individuals having evidence of brain iron accumulation on imaging. Age of onset is variable and affected individuals typically present with other features such as parkinsonism and dystonia.Created: 4 Dec 2024, 2:26 a.m. | Last Modified: 4 Dec 2024, 2:26 a.m.
Panel Version: 0.35
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurodegeneration with brain iron accumulation 3 MIIM#606159
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- GeneReviews
- Expert Review Green
- Phenotypes
-
- Neuroferritinopathy
- OMIM
- 134790
- Clinvar variants
- Variants in FTL
- Penetrance
- None
- Panels with this gene
-
- Early-onset Parkinson disease
- Regression
- Incidentalome
- Early-onset Dementia
- Neurodegeneration with brain iron accumulation
- Fetal anomalies
- Additional findings_Paediatric
- Dystonia - complex
- BabyScreen+ newborn screening
- Cataract
- Metal Metabolism Disorders
- Intellectual disability syndromic and non-syndromic
History Filter Activity
10 Nov 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: FTL was added gene: FTL was added to Neuroferritinopathies. Sources: Expert Review Green,GeneReviews Mode of inheritance for gene: FTL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FTL were set to Neuroferritinopathy