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Amyotrophic lateral sclerosis/motor neuron disease

Gene: UNC13A

Red List (low evidence)
UNC13A (unc-13 homolog A)
EnsemblGeneIds (GRCh38): ENSG00000130477
EnsemblGeneIds (GRCh37): ENSG00000130477
OMIM: 609894, Gene2Phenotype
UNC13A is in 6 panels

2 reviews

David Collier (King's College London)

I don't know

The published association is with a common variant. There is supporting for a common variant, GWAS association at this locus. It may be a phenotypic modifier. UNC13A splicing appears to be involved in ALS. More useful for understanding disease biology then for genetic test.
Created: 2 Jul 2024, 1:30 p.m. | Last Modified: 2 Jul 2024, 1:30 p.m.
Panel Version: 1.69

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
ALS; amyotrophic lateral sclerosis; motor neuron disease; MND; Frontotemporal Dementia (FTD); ALS and FTD (FTD-TDP)

Publications

Created: 2 Jul 2024, 1:30 p.m.
Last Modified: 2 Jul 2024, 1:30 p.m.
Panel version: 1.69

Ellen McDonagh (Genomics England Curator)

Comment on list classification: May be a disease-modifying genes - see PMID: 24488689.
Created: 15 Jun 2016, 2:22 p.m.
Created: 15 Jun 2016, 2:22 p.m.

Panel version: 0.104

History Filter Activity

1 Mar 2022, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: UNC13A were set to

19 Dec 2016, Gel status: 0

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 on 19th December 2016 following external review and internal curation

15 Jun 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

UNC13A was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Sources: Literature

15 Jun 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

UNC13A was created by ellenmcdonagh