Early-onset Dementia
Gene: TARDBP

TARDBP (TAR DNA binding protein)
EnsemblGeneIds (GRCh38): ENSG00000120948
EnsemblGeneIds (GRCh37): ENSG00000120948
OMIM: 605078, Gene2Phenotype
TARDBP is in 6 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Well established gene causative of FTD.

Variants in heterozygous or homozygous state can cause ALS-FTD.
p.Gly294Val and p.Ala382Thr have been reported to cause ALS-FTD in homozygous state (PMID: 21803454).
Created: 16 Aug 2023, 1:52 a.m. | Last Modified: 16 Aug 2023, 1:52 a.m.

Panel Version: 0.179

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Amyotrophic lateral sclerosis 10, with or without FTD (MIM#612069)

Publications

Created: 16 Aug 2023, 1:52 a.m.
Last Modified: 16 Aug 2023, 1:52 a.m.
Panel version: 0.179

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
Melbourne Genomics Health Alliance Complex Neurology Flagship
Victorian Clinical Genetics Services

Phenotypes

Amyotrophic lateral sclerosis 10, with or without FTD (MIM#612069)

OMIM

605078

Clinvar variants

Variants in TARDBP

Penetrance

None

Publications

Panels with this gene