Paediatric motor neuronopathies

Gene: EXOSC8

Amber List (moderate evidence)

EXOSC8 (exosome component 8)
EnsemblGeneIds (GRCh38): ENSG00000120699
EnsemblGeneIds (GRCh37): ENSG00000120699
OMIM: 606019, Gene2Phenotype
EXOSC8 is in 5 panels

3 reviews

Pinki Munot (Consultant )

I don't know

only 3 pedigrees.
Created: 2 Mar 2017, 6:40 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
infantile neurodegenerative disease; pontocerebellar and corpus callosum hypoplasia, hypomyelination and SMA.

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: Marked as amber as the association with motor neuronopathy is not well established
Created: 7 Mar 2017, 12:31 p.m.
22 infants from 3 pedigrees (2 Hungarian, 1 pakistani) described with a severe complex neuological disorder characterised by severe muscle weakness, spasticity, psychomotor retardation and vision and hearing impairment. MRI: variable abnormalities including vermis hypoplasia, immature myelination, cortical atrophy and thin corpus callosum
Created: 31 Jan 2017, 1:47 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia, type 1C 616081

Publications

Alice Gardham (Genomics England)

I don't know

Mutations identified in three families (two from same population) and supported by zebrafish model
Created: 26 Jan 2017, 2:04 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia, type 1C 616081

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • UKGTN
Phenotypes
  • Pontocerebellar hypoplasia, type 1C, OMIM:616081
  • neuronopathy, distal hereditary motor, MONDO:0000075
OMIM
606019
Clinvar variants
Variants in EXOSC8
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

18 Mar 2021, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: EXOSC8 were changed from Pontocerebellar hypoplasia, type 1C, OMIM:616081 to Pontocerebellar hypoplasia, type 1C, OMIM:616081; neuronopathy, distal hereditary motor, MONDO:0000075

18 Mar 2021, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: EXOSC8 were changed from Pontocerebellar hypoplasia, type 1C, OMIM:616081 to Pontocerebellar hypoplasia, type 1C, OMIM:616081

18 Mar 2021, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: EXOSC8 were changed from Pontocerebellar hypoplasia, type 1C 616081 to Pontocerebellar hypoplasia, type 1C, OMIM:616081

7 Mar 2017, Gel status: 2

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Gene panel promoted to v1 on 7 March 2017 following external review and internal curation

7 Mar 2017, Gel status: 2

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

26 Jan 2017, Gel status: 2

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Amber List (Moderate Evidence).

26 Jan 2017, Gel status: 1

Added New Source

Alice Gardham (Genomics England)

EXOSC8 was added to Paediatric motor neuronopathiespanel. Sources: UKGTN,Literature

26 Jan 2017, Gel status: 0

Created

Alice Gardham (Genomics England)

EXOSC8 was created by agardham