Amyotrophic lateral sclerosis/motor neuron disease
Gene: UBQLN2EnsemblGeneIds (GRCh38): ENSG00000188021
EnsemblGeneIds (GRCh37): ENSG00000188021
OMIM: 300264, Gene2Phenotype
UBQLN2 is in 3 panels
2 reviews
Caroline Wright (Genomics England Curator)
Comment on list classification: Lots of variants in ClinVar and OMIMCreated: 10 May 2016, 2:32 p.m.
Ellen McDonagh (Genomics England Curator)
Comment on list classification: As this is included in the NHNN NGS gene panel for ALS/MND and has multiple family reports on OMIM for different variants.Created: 13 Jun 2016, 9:48 a.m.
This gene is on the ALS/MND NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual: "UBQLN2 mutations in this gene have been implicated as causes of familial amyotrophic lateral sclerosis (ALS15) which is X-linked and 90% penetrant in females."Created: 13 Jun 2016, 9:16 a.m.
The mode of inheritance for the UBQLN2 gene was defined as dominant in the Illumina source. As this gene is on the X-chromosome, this is represented as X linked: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) here.Created: 18 Aug 2015, 10:03 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
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
- Expert
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Amyotrophic Lateral Sclerosis, Dominant
- 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
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 on 19th December 2016 following external review and internal curation
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene UBQLN2 was set to X linked: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added New Source
Ellen McDonagh (Genomics England Curator)UBQLN2 was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Source: Expert
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene UBQLN2 was set to X linked: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added New Source
Ellen McDonagh (Genomics England Curator)UBQLN2 was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Source: Radboud University Medical Center, Nijmegen
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene UBQLN2 was set to X linked: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added New Source
Ellen McDonagh (Genomics England Curator)UBQLN2 was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Source: Illumina TruGenome Clinical Sequencing Services
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene UBQLN2 was set to X linked: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added New Source
Ellen McDonagh (Genomics England Curator)UBQLN2 was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Source: Expert
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene UBQLN2 was set to X linked: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added New Source
Ellen McDonagh (Genomics England Curator)UBQLN2 was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)UBQLN2 was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert