1. Panels
  2. Early onset dementia (encompassing fronto-temporal dementia and prion disease)
  3. UBQLN2
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Early onset dementia (encompassing fronto-temporal dementia and prion disease)

Gene: UBQLN2

Green List (high evidence)
UBQLN2 (ubiquilin 2)
EnsemblGeneIds (GRCh38): ENSG00000188021
EnsemblGeneIds (GRCh37): ENSG00000188021
OMIM: 300264, Gene2Phenotype
UBQLN2 is in 3 panels

2 reviews

simon mead (UCL)

Green List (high evidence)

Created: 5 Nov 2017, 2:40 a.m.

Panel version: 0

Caroline Wright (Genomics England Curator)

Comment on mode of inheritance: XLD in OMIM
Created: 10 May 2016, 2:30 p.m.
Comment on list classification: Associated with ALS in OMIM and ClinVar, and most patients also had dementia
Created: 10 May 2016, 2:29 p.m.
Created: 10 May 2016, 2:29 p.m.

Panel version: 0.37

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia, 300857
OMIM
300264
Clinvar variants
Variants in UBQLN2
Penetrance
Complete
Panels with this gene

History Filter Activity

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

10 May 2016, Gel status: 4

Set Mode of Inheritance

Caroline Wright (Genomics England Curator)

Mode of inheritance for UBQLN2 was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

27 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

UBQLN2 was added to Early onset dementia (encompassing fronto-temporal dementia and prion disease)panel. Sources: Radboud University Medical Center, Nijmegen