Hereditary spastic paraplegia - childhood onset

Gene: EXOSC3

No list

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

1 review

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

Complicated hereditary spastic paraplegia


History Filter Activity

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