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DDG2P

Gene: UNC79

Red List (low evidence)

UNC79 (unc-79 homolog, NALCN channel complex subunit)
EnsemblGeneIds (GRCh38): ENSG00000133958
EnsemblGeneIds (GRCh37): ENSG00000133958
OMIM: 616884, Gene2Phenotype
UNC79 is in 1 panel

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for UNC79-related intellectual disability with focal motor seizures are limited, monoallelic_autosomal and loss of function (PMID:37183800). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03702.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.
Panel Version: 6.17

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
UNC79-related intellectual disability with focal motor seizures

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Red
Phenotypes
  • UNC79-related intellectual disability with focal motor seizures
OMIM
616884
Clinvar variants
Variants in UNC79
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: UNC79 was added gene: UNC79 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: UNC79 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: UNC79 were set to 37183800 Phenotypes for gene: UNC79 were set to UNC79-related intellectual disability with focal motor seizures