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Early-onset Dementia

Gene: UBQLN2

Green List (high evidence)
UBQLN2 (ubiquilin 2)
EnsemblGeneIds (GRCh38): ENSG00000188021
EnsemblGeneIds (GRCh37): ENSG00000188021
OMIM: 300264, Gene2Phenotype
UBQLN2 is in 4 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

I don't know

Identified in unrelated individuals with FTD phenotype however there is conflicting interpretation of the mode of pathogenesis.

PMID: 31319884
Proposed method of pathogenicity using transgenic mice models as loss of function due to the impairment of the UPS pathway.

PMID: 21857683
4 unrelated families with affected individuals with ALS/FTD phenotype.

PMID: 30348461
Individual with FTD at the age of 54.
Created: 14 Aug 2023, 5:03 a.m. | Last Modified: 14 Aug 2023, 5:03 a.m.
Panel Version: 0.160

Phenotypes
Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (MIM#300857)

Publications

Created: 14 Aug 2023, 5:03 a.m.
Last Modified: 14 Aug 2023, 5:03 a.m.
Panel version: 0.160

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
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (MIM#300857)
OMIM
300264
Clinvar variants
Variants in UBQLN2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Aug 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: UBQLN2 were changed from Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (MIM#300857) to Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (MIM#300857)

14 Aug 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ubqln2 has been classified as Green List (High Evidence).

14 Aug 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: UBQLN2 were changed from to Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (MIM#300857)

14 Aug 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: UBQLN2 were set to

14 Aug 2023, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: UBQLN2 was added gene: UBQLN2 was added to Early-onset Dementia_MGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship Mode of inheritance for gene: UBQLN2 was set to Unknown