Childhood onset hereditary spastic paraplegia
Gene: EXOSC3
EXOSC3 (exosome component 3)
EnsemblGeneIds (GRCh38): ENSG00000107371
EnsemblGeneIds (GRCh37): ENSG00000107371
OMIM: 606489, Gene2Phenotype
EXOSC3 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000107371
EnsemblGeneIds (GRCh37): ENSG00000107371
OMIM: 606489, Gene2Phenotype
EXOSC3 is in 14 panels
2 reviews
Arina Puzriakova (Genomics England Curator)
Comment on list classification: Rating Amber as only two families have been reported to date with early-onset spastic paraplegia associated with biallelic variants in this gene. Other features included variable cognitive impairment and cerebellar atrophy but normal pons.Created: 23 Nov 2021, 1:24 p.m. | Last Modified: 23 Nov 2021, 1:24 p.m.
Panel Version: 2.108
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Complicated hereditary spastic paraplegia
- OMIM
- 606489
- Clinvar variants
- Variants in EXOSC3
- Penetrance
- None
- Publications
- Panels with this gene
-
- Adult onset neurodegenerative disorder
- Childhood onset hereditary spastic paraplegia
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia with onset in adulthood
- Paediatric motor neuronopathies
- Hereditary neuropathy or pain disorder
- Ataxia and cerebellar anomalies - narrow panel
- DDG2P
- Cerebellar hypoplasia
- Arthrogryposis
- Hereditary ataxia
- Early onset or syndromic epilepsy
- Fetal anomalies
History Filter Activity
23 Nov 2021, Gel status: 2
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: exosc3 has been classified as Amber List (Moderate Evidence).
19 Sep 2020, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)gene: EXOSC3 was added gene: EXOSC3 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list Mode of inheritance for gene: EXOSC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EXOSC3 were set to 25149867; 23975261 Phenotypes for gene: EXOSC3 were set to Complicated hereditary spastic paraplegia Review for gene: EXOSC3 was set to AMBER