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  3. UBQLN4
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Motor Neurone Disease

Gene: UBQLN4

Amber List (moderate evidence)
UBQLN4 (ubiquilin 4)
EnsemblGeneIds (GRCh38): ENSG00000160803
EnsemblGeneIds (GRCh37): ENSG00000160803
OMIM: 605440, Gene2Phenotype
UBQLN4 is in 1 panel

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

A single familial case and supporting functional studies and animal model.
Sources: Expert list
Created: 1 Apr 2020, 7:32 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Amyotrophic lateral sclerosis

Publications

Created: 1 Apr 2020, 7:32 a.m.

Panel version: 0.34

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Amyotrophic lateral sclerosis
OMIM
605440
Clinvar variants
Variants in UBQLN4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ubqln4 has been classified as Amber List (Moderate Evidence).

1 Apr 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: UBQLN4 was added gene: UBQLN4 was added to Motor Neuron Disease. Sources: Expert list Mode of inheritance for gene: UBQLN4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: UBQLN4 were set to 28463112; 30804504 Phenotypes for gene: UBQLN4 were set to Amyotrophic lateral sclerosis Review for gene: UBQLN4 was set to AMBER