Hereditary spastic paraplegia - childhood onset

Gene: EXOSC3

Amber List (moderate evidence)

EXOSC3 (exosome component 3)
EnsemblGeneIds (GRCh38): ENSG00000107371
EnsemblGeneIds (GRCh37): ENSG00000107371
OMIM: 606489, Gene2Phenotype
EXOSC3 is in 15 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

Zornitza Stark (Australian Genomics)

I don't know

Two families with a complicated HSP phenotype.
Sources: Expert list
Created: 19 Sep 2020, 7:20 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Complicated hereditary spastic paraplegia

Publications

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