DDG2P
Gene: UNC13A

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

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for UNC13A-related neurodevelopmental disorder with ataxia and tremor or dyskinetic movements are moderate, monoallelic_autosomal and gain of function (PMIDs: 28192369, 41125872). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03905. The DDG2P confidence category, allelic requirement and molecular mechanism for UNC13A-related congenital epileptic encephalopathy and severe neuromuscular disorder are moderate, biallelic_autosomal and loss of function (PMIDs: 27648472, 36447687, 41125872). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03909.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.

Panel Version: 6.17

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
UNC13A-related neurodevelopmental disorder with ataxia and tremor or dyskinetic movements; UNC13A-related congenital epileptic encephalopathy and severe neuromuscular disorder; MONDO:0100038

Publications

Created: 13 Feb 2026, 9:26 p.m.
Last Modified: 13 Feb 2026, 9:26 p.m.
Panel version: 6.17

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

DD-Gene2Phenotype
Expert Review Green

Phenotypes

UNC13A-related congenital epileptic encephalopathy and severe neuromuscular disorder
MONDO:0100038
UNC13A-related neurodevelopmental disorder with ataxia and tremor or dyskinetic movements

OMIM

609894

Clinvar variants

Variants in UNC13A

Penetrance

None

Publications

Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: UNC13A was added gene: UNC13A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: UNC13A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: UNC13A were set to 41125872; 27648472; 28192369; 36447687 Phenotypes for gene: UNC13A were set to UNC13A-related congenital epileptic encephalopathy and severe neuromuscular disorder; MONDO:0100038; UNC13A-related neurodevelopmental disorder with ataxia and tremor or dyskinetic movements

DDG2P Gene: UNC13A