Genetic Epilepsy
Gene: EXOSC8

EXOSC8 (exosome component 8)
EnsemblGeneIds (GRCh38): ENSG00000120699
EnsemblGeneIds (GRCh37): ENSG00000120699
OMIM: 606019, Gene2Phenotype
EXOSC8 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Typical clinical presentation is with severe muscle weakness and failure to thrive apparent in the first months of life. Affected infants show delayed psychomotor development, often with visual and hearing impairment, and may die of respiratory failure. Brain imaging typically shows cerebellar hypoplasia, hypoplasia of the corpus callosum, and immature myelination.

Single family reported with seizures as part of the phenotype.
Sources: Literature
Created: 18 Oct 2021, 4:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia, type 1C, MIM#616081

Publications

Created: 18 Oct 2021, 4:44 a.m.

Panel version: 0.1326

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Literature

Phenotypes

Pontocerebellar hypoplasia, type 1C, MIM#616081

OMIM

606019

Clinvar variants

Variants in EXOSC8

Penetrance

None

Publications

Panels with this gene

History Filter Activity

18 Oct 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: exosc8 has been classified as Red List (Low Evidence).

18 Oct 2021, Gel status: 1

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