Paediatric motor neuronopathies
Gene: EXOSC8
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.
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
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
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
Phenotypes for gene: EXOSC8 were changed from Pontocerebellar hypoplasia, type 1C, OMIM:616081 to Pontocerebellar hypoplasia, type 1C, OMIM:616081
Phenotypes for gene: EXOSC8 were changed from Pontocerebellar hypoplasia, type 1C 616081 to Pontocerebellar hypoplasia, type 1C, OMIM:616081
Gene panel promoted to v1 on 7 March 2017 following external review and internal curation
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
EXOSC8 was added to Paediatric motor neuronopathiespanel. Sources: UKGTN,Literature
EXOSC8 was created by agardham