TARDBP:Ensemblv115

TAR DNA binding protein
OMIM: 605078, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green TARDBP in Early-onset Dementia


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Expert Review Green
Phenotypes
  • Amyotrophic lateral sclerosis 10, with or without FTD (MIM#612069)

Green TARDBP in Motor Neurone Disease


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Expert Review Green
Phenotypes
  • Amyotrophic lateral sclerosis 10, with or without FTD
  • Frontotemporal lobar degeneration, TARDBP-related (MIM#612069
  • MONDO: 0012790)

Green TARDBP in Incidentalome


Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Amyotrophic lateral sclerosis 10, with or without FTD
  • Frontotemporal lobar degeneration, TARDBP-related (MIM#612069
  • MONDO: 0012790)