Motor Neurone Disease

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)

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

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

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

19 May 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 type 15 (MONDO:0010459; MIM#300857)

19 May 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: UBQLN2 were set to

19 May 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, biallelic mutations in females

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 Motor neuron disease MND_MelbourneGenomics_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