Amyotrophic lateral sclerosis/motor neuron disease
Gene: TARDBP
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
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
Promoted to version 1 on 19th December 2016 following external review and internal curation
This gene has been classified as Green List (High Evidence).
Publications for TARDBP were set to 23881933
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene TARDBP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
TARDBP was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Source: Expert
Model of inheritance for gene TARDBP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
TARDBP was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Source: Radboud University Medical Center, Nijmegen
Model of inheritance for gene TARDBP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
TARDBP was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Source: Illumina TruGenome Clinical Sequencing Services
Model of inheritance for gene TARDBP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
TARDBP was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Source: UKGTN
Model of inheritance for gene TARDBP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
TARDBP was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Source: Expert
Model of inheritance for gene TARDBP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
TARDBP was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Source: Radboud University Medical Center, Nijmegen
Model of inheritance for gene TARDBP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
TARDBP was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Source: Illumina TruGenome Clinical Sequencing Services
TARDBP was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert