Motor Neurone Disease
Gene: UBQLN2

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

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Established gene causative of familial amyotrophic lateral sclerosis (ALS)
Variable age of onset and is the only known gene to cause X-Linked ALS (at this present time)

PMID: 21857683
Individuals from 3 unrelated families with phenotypic features of ALS and mutations in UBQLN2
Created: 18 May 2023, 5:05 a.m. | Last Modified: 18 May 2023, 5:05 a.m.

Panel Version: 0.138

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Amyotrophic lateral sclerosis type 15 (MONDO:0010459; MIM#300857)

Publications

Created: 18 May 2023, 5:05 a.m.
Last Modified: 18 May 2023, 5:05 a.m.
Panel version: 0.138

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 type 15 (MONDO:0010459
MIM#300857)

OMIM

300264

Clinvar variants

Variants in UBQLN2

Penetrance

None

Publications

Panels with this gene

History Filter Activity

21 Apr 2024, Gel status: 3

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

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

21 Apr 2024, Gel status: 3

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

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

19 May 2023, Gel status: 3