Genetic Epilepsy
Gene: HACE1

HACE1 (HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1)
EnsemblGeneIds (GRCh38): ENSG00000085382
EnsemblGeneIds (GRCh37): ENSG00000085382
OMIM: 610876, Gene2Phenotype
HACE1 is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Spastic paraplegia and psychomotor retardation with or without seizures is an autosomal recessive complex neurodevelopmental disorder with onset in infancy. Affected children show hypotonia followed by severely impaired global development and significant motor disability. Most develop seizures in childhood and have speech delay. Other features, such as ocular abnormalities, foot deformities, hypoplasia of the corpus callosum, and decreased white matter, are more variable. 8 unrelated families, mouse model.
Created: 14 Mar 2021, 6:31 a.m. | Last Modified: 14 Mar 2021, 6:31 a.m.

Panel Version: 0.1035

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia and psychomotor retardation with or without seizures, 616756; MONDO:0014764

Publications

Created: 14 Mar 2021, 6:31 a.m.
Last Modified: 14 Mar 2021, 6:31 a.m.
Panel version: 0.1035

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

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

Phenotypes

Spastic paraplegia and psychomotor retardation with or without seizures, 616756
MONDO:0014764

OMIM

610876

Clinvar variants

Variants in HACE1

Penetrance

None

Publications

Panels with this gene