Genetic Epilepsy
Gene: UNC80

UNC80 (unc-80 homolog, NALCN channel complex subunit)
EnsemblGeneIds (GRCh38): ENSG00000144406
EnsemblGeneIds (GRCh37): ENSG00000144406
OMIM: 612636, Gene2Phenotype
UNC80 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

UNC80 is part of the NALCN complex, and this is considered a NALCN channelopathy.

More than 20 individuals from more than 5 unrelated families reported with bi-allelic variants in this gene and severe autosomal recessive neurodevelopmental disorder with onset at birth or in early infancy. Affected individuals show severe global developmental delay with poor or absent speech and absent or limited ability to walk. Some have had seizures; brain structure is typically normal.

UNC80 knockout mice are neonatal lethal.
Created: 4 Nov 2020, 9:32 p.m. | Last Modified: 4 Nov 2020, 9:32 p.m.

Panel Version: 0.895

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, MIM# 616801; MONDO:0014777

Publications

Created: 4 Nov 2020, 9:32 p.m.
Last Modified: 4 Nov 2020, 9:32 p.m.
Panel version: 0.895

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Epilepsy Flagship

Phenotypes

Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, MIM# 616801
MONDO:0014777

OMIM

612636

Clinvar variants

Variants in UNC80

Penetrance

None

Publications

Panels with this gene