Hereditary Spastic Paraplegia - paediatric
Gene: EXOSC3EnsemblGeneIds (GRCh38): ENSG00000107371
EnsemblGeneIds (GRCh37): ENSG00000107371
OMIM: 606489, Gene2Phenotype
EXOSC3 is in 17 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Two families with a complicated HSP phenotype.Created: 19 Apr 2020, 9:50 a.m. | Last Modified: 19 Apr 2020, 9:50 a.m.
Panel Version: 0.67
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Complicated hereditary spastic paraplegia
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Royal Melbourne Hospital
- Phenotypes
-
- Pontocerebellar hypoplasia, type 1b
- Complicated hereditary spastic paraplegia
- OMIM
- 606489
- Clinvar variants
- Variants in EXOSC3
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- Hereditary Neuropathy - complex
- Mitochondrial disease
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Muscular dystrophy and myopathy_Paediatric
- Regression
- Fetal anomalies
- Arthrogryposis
- Mendeliome
- Prepair 500+
- Hereditary Spastic Paraplegia - paediatric
- Callosome
- Ataxia - paediatric
- Cerebral Palsy
- Cerebellar and Pontocerebellar Hypoplasia
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: exosc3 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: EXOSC3 were changed from Pontocerebellar hypoplasia, type 1b to Pontocerebellar hypoplasia, type 1b; Complicated hereditary spastic paraplegia
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: EXOSC3 was added gene: EXOSC3 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital 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 Pontocerebellar hypoplasia, type 1b