Genes in panel
STRs in panel
Prev Next

Genetic epilepsy syndromes

Gene: EXOSC3

Green List (high evidence)

EXOSC3 (exosome component 3)
EnsemblGeneIds (GRCh38): ENSG00000107371
EnsemblGeneIds (GRCh37): ENSG00000107371
OMIM: 606489, Gene2Phenotype
EXOSC3 is in 13 panels

3 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Seizures are not frequently reported.AR pontocerebellar hypoplasia type 1B - combination of cerebellar And spinal motor neuron degeneration beginning at birth - seizures seen in some patients. Rudnick-Schoneborn et al, 2003 - 6 patients from 4 families - all had pontocerebellar hypoplasia - all but 1 of the children died within the first yearof life - 1 had epilepsy and 2 had infantile seizures (3/6). None of the other references listed on OMIM incl Wan et al, 2012, Schwabova et al, 2013 mention epilepsy/seizures in patients. Rudnik-Schoneborn et al, 2013 - bialleleic mutations detected in 10/27 families (37%) most common D132A (11/20 individuals 55%). 3/15 patients had epilepsy - is it the same patients reported in 2003 - could all be related the epilepsy patients? Eggens et al (gene review) - seizures mainly reported in individuals who survive beyone infancy and a few instances of infantile spasms are described. Around 25% of those with prolonged survival develop spasticity or epileptic seizures. Eggens et al, 2014 - 12 families (14 patients) with EXOSC3 mutations with PCH subtype 1. 2/14 (unrelated) had seizures as part of phenotype.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia, type 1B, 614678

Publications

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
Comment on list classification: Updated rating from Amber to Green: Green review by Zornitza plus sufficient unrelated cases (>3) of seizures in patients with EXOSC3 variants from PMIDs:24524299 and 23284067 for inclusion on panel.
Created: 3 Dec 2018, 10:26 a.m.
Rudnik-Schoneborn et al 2013 (PMID:23284067) detected biallelic variants in EXOSC3 in 15 patients (10 of 27 families). Epileptic seizures occurred in 3 patients in 2 families, including absence epilepsy in patient 2-1 and infantile spasms in 2 sisters (5-1 and 5-2).
Created: 3 Dec 2018, 10:25 a.m.
PMID:24524299 (Eggens et al, 2014) summarise 14 patients with the EXOSC3 variants out of a cohort of 99 PCH patients (90 families). Seizures are reported in patients 7-I and Patient 8. Seizures were not recorded in the p.G31A group (6 patients, 5 families).
Created: 29 Nov 2018, 1:20 p.m.
PMID:23883322: states that Epileptic seizures were not noted in any of their patients.
Created: 29 Nov 2018, 1:09 p.m.
PMID:25144110 summary confirms that epileptic seizures are reported in some patients.
Created: 29 Nov 2018, 1:08 p.m.
PMID:25149867 (Halevy et al, 2014): Of the 4 patients, 1 patient had a single atonic seizure age 12 years.
Created: 29 Nov 2018, 1:08 p.m.
Zanni et al (PMID:23975261, Supplementary table) compare clinical features of two affected Bangladeshi siblings with missense variants in EXOSC3, and compares them to D132A-related PCH1 patients. Epilepsy is not recorded for the siblings, but is listed as a feature of D132A-related PCH1 patients (with no further specifics provided).
Created: 29 Nov 2018, 1:08 p.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Seizures are reported in some patients with this brain development disorder.
Created: 13 Aug 2018, 11:50 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia, type 1B, MIM#614678

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to EXOSC3.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to EXOSC3.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: Seizures are reported in some

3 Dec 2018, Gel status: 3

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: EXOSC3 were set to 25144110; 25149867; 23975261

3 Dec 2018, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: exosc3 has been classified as Green List (High Evidence).

3 Dec 2018, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: exosc3 has been classified as Green List (High Evidence).

29 Nov 2018, Gel status: 2

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: EXOSC3 were set to

29 Nov 2018, Gel status: 2

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: EXOSC3 was changed from to BIALLELIC, autosomal or pseudoautosomal

29 Nov 2018, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: EXOSC3 were changed from to Pontocerebellar hypoplasia, type 1B, 614678

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to EXOSC3. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

EXOSC3 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

EXOSC3 was created by Sarah Leigh