Amyotrophic lateral sclerosis/motor neuron disease
Gene: TARDBPEnsemblGeneIds (GRCh38): ENSG00000120948
EnsemblGeneIds (GRCh37): ENSG00000120948
OMIM: 605078, Gene2Phenotype
TARDBP is in 4 panels
3 reviews
Nayana Lahiri (South London GMC)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Alice Gardham (Genomics England)
Over 200 reported cases. Makes up 3.4% FALS. offered on Sheffiled ALS panel. Orphanet -widely offered as diagnostic test in Europe.
Not recognised on G2P.
Created: 24 Nov 2016, 3:21 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Amyotrophic lateral sclerosis 10, with or without FTD 612069
Publications
Ellen McDonagh (Genomics England Curator)
Comment on list classification: A study in Irish patients indicates that TARDBP may not cause ALS in isolation, and suggests oligogenic inheritance (PMID: 23881933).Created: 9 Sep 2016, 9:47 a.m.
Comment on list classification: Gene rated green by an expert review, and included on the NGNN ALS/MND NGS gene panel. It would found in 3/4 of the initial sources, and has multiple cases/families reported in OMIM, for different variants.Created: 13 Jun 2016, 9:36 a.m.
This gene is on the ALS/MND NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.Created: 13 Jun 2016, 9:15 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Expert
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Phenotypes
-
- Amyotrophic Lateral Sclerosis, Dominant
- Amyotrophic lateral sclerosis 10, with or without FTD, 612069
- Tags
- OMIM
- 605078
- Clinvar variants
- Variants in TARDBP
- Penetrance
- Incomplete
- Publications
- Panels with this gene
History Filter Activity
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 on 19th December 2016 following external review and internal curation
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for TARDBP were set to 23881933
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene TARDBP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)TARDBP was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Source: Expert
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene TARDBP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)TARDBP was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Source: Radboud University Medical Center, Nijmegen
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene TARDBP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)TARDBP was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Source: Illumina TruGenome Clinical Sequencing Services
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene TARDBP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)TARDBP was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Source: UKGTN
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene TARDBP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)TARDBP was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Source: Expert
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene TARDBP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)TARDBP was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Source: Radboud University Medical Center, Nijmegen
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene TARDBP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)TARDBP was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Source: Illumina TruGenome Clinical Sequencing Services
Added New Source
Ellen McDonagh (Genomics England Curator)TARDBP was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert