1. Panels
  2. Early onset dementia (encompassing fronto-temporal dementia and prion disease)
  3. TARDBP
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Early onset dementia (encompassing fronto-temporal dementia and prion disease)

Gene: TARDBP

Green List (high evidence)
TARDBP (TAR DNA binding protein)
EnsemblGeneIds (GRCh38): ENSG00000120948
EnsemblGeneIds (GRCh37): ENSG00000120948
OMIM: 605078, Gene2Phenotype
TARDBP is in 4 panels

2 reviews

simon mead (UCL)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Created: 5 Nov 2017, 2:40 a.m.

Panel version: 0

Caroline Wright (Genomics England Curator)

Comment on list classification: 3 pathogenic variants in clinvar associated with FRONTOTEMPORAL DEMENTIA
Created: 10 May 2016, 12:36 p.m.
Created: 10 May 2016, 12:36 p.m.

Panel version: 0.17

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Frontotemporal Dementia
OMIM
605078
Clinvar variants
Variants in TARDBP
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

10 May 2016, Gel status: 4

Set publications

Caroline Wright (Genomics England Curator)

Publications for TARDBP were set to 20697052

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

27 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene TARDBP was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

27 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene TARDBP was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

27 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene TARDBP was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

27 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

TARDBP was added to Early onset dementia (encompassing fronto-temporal dementia and prion disease)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN

27 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

TARDBP was added to Early onset dementia (encompassing fronto-temporal dementia and prion disease)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN