Paediatric motor neuronopathies
Gene: EXOSC8EnsemblGeneIds (GRCh38): ENSG00000120699
EnsemblGeneIds (GRCh37): ENSG00000120699
OMIM: 606019, Gene2Phenotype
EXOSC8 is in 8 panels
3 reviews
Pinki Munot (Consultant )
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)
Comment when marking as ready: Marked as amber as the association with motor neuronopathy is not well establishedCreated: 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 callosumCreated: 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)
Mutations identified in three families (two from same population) and supported by zebrafish modelCreated: 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
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
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
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
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
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Amber List (Moderate Evidence).
Added New Source
Alice Gardham (Genomics England)EXOSC8 was added to Paediatric motor neuronopathiespanel. Sources: UKGTN,Literature
Created
Alice Gardham (Genomics England)EXOSC8 was created by agardham