BRIDGE_SPEED_NEURO_20170705
Gene: TARDBP

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

1 review

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_movement_disorder_list;in_UKGTN_v12 . Main mutation mechanism : NA
Created: 28 Jul 2017, 10:51 a.m.

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

Publications

Personal communication with NIHRBRRD BRIDGE SPEED
Version 12 ukgtn.nhs.uk

Created: 2 Aug 2017, 7:37 p.m.

Panel version: 0.191

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

BRIDGE study SPEED NEURO Tier1 Gene
Expert Review Green

Phenotypes

Amyotrophic lateral sclerosis 10, with or without FTD, 612069
Frontotemporal lobar degeneration, TARDBP-related, 612069

OMIM

605078

Clinvar variants

Variants in TARDBP

Penetrance

Complete

Panels with this gene

History Filter Activity

27 Jul 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

TARDBP was created by LouiseD

27 Jul 2017, Gel status: 4

Added New Source