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Research panel - Severe Paediatric Disorders

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

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: TARDBP; Recommended initial gene rating: Green List (high evidence); Phenotypes: Amyotrophic lateral sclerosis 10, with or without FTD, 612069 (3) | Frontotemporal lobar degeneration, TARDBP-related, 612069 (3); Mode of inheritance: Autosomal dominant | Autosomal dominant
Created: 20 Feb 2020, 5:26 p.m. | Last Modified: 20 Feb 2020, 5:26 p.m.
Panel Version: 0.12
Created: 20 Feb 2020, 5:26 p.m.
Last Modified: 20 Feb 2020, 5:26 p.m.
Panel version: 0.12

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Amyotrophic lateral sclerosis 10, with or without FTD, 612069
  • Frontotemporal lobar degeneration, TARDBP-related, 612069
OMIM
605078
Clinvar variants
Variants in TARDBP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene TARDBP were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Amyotrophic lateral sclerosis 10, with or without FTD, 612069; Frontotemporal lobar degeneration, TARDBP-related, 612069 for gene: TARDBP

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Amyotrophic lateral sclerosis 10, with or without FTD, 612069; Frontotemporal lobar degeneration, TARDBP-related, 612069 for gene: TARDBP

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Amyotrophic lateral sclerosis 10, with or without FTD, 612069; Frontotemporal lobar degeneration, TARDBP-related, 612069 for gene: TARDBP

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Frontotemporal lobar degeneration, TARDBP-related, 612069; Amyotrophic lateral sclerosis 10, with or without FTD, 612069 for gene: TARDBP

19 Feb 2020, Gel status: 3

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene TARDBP was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Amyotrophic lateral sclerosis 10, with or without FTD, 612069; Frontotemporal lobar degeneration, TARDBP-related, 612069 for gene: TARDBP

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to TARDBP.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to TARDBP. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: TARDBP was added gene: TARDBP was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: TARDBP was set to