Dystonia - complex
Gene: FTLEnsemblGeneIds (GRCh38): ENSG00000087086
EnsemblGeneIds (GRCh37): ENSG00000087086
OMIM: 134790, Gene2Phenotype
FTL is in 12 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Established gene-disease association. Affected individuals reported with variable neurological phenotypes including dystonia.Created: 9 Dec 2024, 4:46 a.m. | Last Modified: 9 Dec 2024, 4:46 a.m.
Panel Version: 0.254
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
neuroferritinopathy MONDO:0011638
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Neurodegeneration with brain iron accumulation 3, MIM# 606159
- OMIM
- 134790
- Clinvar variants
- Variants in FTL
- Penetrance
- None
- Publications
- 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ftl has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: FTL were changed from Neurodegeneration with brain iron accumulation 3 606159 to Neurodegeneration with brain iron accumulation 3, MIM# 606159
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: FTL were set to
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: FTL was added gene: FTL was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,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