Intellectual disability syndromic and non-syndromic
Gene: EXOSC3

EXOSC3 (exosome component 3)
EnsemblGeneIds (GRCh38): ENSG00000107371
EnsemblGeneIds (GRCh37): ENSG00000107371
OMIM: 606489, Gene2Phenotype
EXOSC3 is in 17 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia, type 1B, MIM# 614678

Created: 1 Dec 2022, 2:32 a.m.
Last Modified: 1 Dec 2022, 2:32 a.m.
Panel version: 0.5042

Michelle Dang (University of Melbourne)

Green List (high evidence)

Association with global developmental delay, hypotonia, hyperreflexia, cerebellar (+/- pontine) atrophy with variable severity. Assessment of cognitive function/IQ limited by motor and speech impairments. Severe forms associated with early deaths during infancy periods.
Intellectual impairment/psychomotor retardation (to varying degrees) reported in all cases across varying degrees of severity (23284067). Zanni et al (23975261) identified 2 individuals with compound heterozygous mutations resulting in intellectual impairment and early onset spasticity. Wan et al (22544365) described global developmental delay in addition to cerebellar features and spinal motor degeneration, with functional effects of the mutation reproduced with knocked down endogenous expression of exosc3 in zebrafish embryos and subsequent rescue of the phenotype by co-injection with wild-type zebrafish exosc3 mRNA.
Created: 30 Nov 2022, 9:38 p.m. | Last Modified: 30 Nov 2022, 9:46 p.m.

Panel Version: 0.5040

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cerebellar atrophy; Developmental delay; Lower motor neuron degeneration; Upper motor neuron features; Spasticity/hyperreflexia (+/-)

Publications

Created: 30 Nov 2022, 9:26 p.m.
Last Modified: 30 Nov 2022, 9:46 p.m.
Panel version: 0.5040

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Genetic Health Queensland

Phenotypes

Pontocerebellar hypoplasia, type 1B, MIM# 614678

OMIM

606489

Clinvar variants

Variants in EXOSC3

Penetrance

None

Publications

Panels with this gene