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  2. Paediatric motor neuronopathies
  3. UBQLN1
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Paediatric motor neuronopathies

Gene: UBQLN1

Red List (low evidence)
UBQLN1 (ubiquilin 1)
EnsemblGeneIds (GRCh38): ENSG00000135018
EnsemblGeneIds (GRCh37): ENSG00000135018
OMIM: 605046, Gene2Phenotype
UBQLN1 is in 1 panel

2 reviews

Pinki Munot (Consultant )

Red List (low evidence)

only an association of BVVL with a variant of unknown significance.
Created: 2 Mar 2017, 7:32 p.m.

Publications

Created: 2 Mar 2017, 7:32 p.m.

Panel version: 0.89

Alice Gardham (Genomics England)

Red List (low evidence)

Variant of uncertain significance in one patient
Created: 18 Jan 2017, 2:25 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Brown-Vialetto-Van Laere syndrome/ atypical motor neurone disease

Publications

Created: 18 Jan 2017, 2:25 p.m.

Panel version: 0.41

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Brown-Vialetto-Van Laere syndrome/ atypical motor neurone disease
OMIM
605046
Clinvar variants
Variants in UBQLN1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

7 Mar 2017, Gel status: 1

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Gene panel promoted to v1 on 7 March 2017 following external review and internal curation

26 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

18 Jan 2017, Gel status: 0

Added New Source

Alice Gardham (Genomics England)

UBQLN1 was added to Paediatric motor neuronopathiespanel. Sources: Literature

18 Jan 2017, Gel status: 0

Created

Alice Gardham (Genomics England)

UBQLN1 was created by agardham