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  2. Hereditary Spastic Paraplegia - paediatric
  3. USP8
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Hereditary Spastic Paraplegia - paediatric

Gene: USP8

Amber List (moderate evidence)
USP8 (ubiquitin specific peptidase 8)
EnsemblGeneIds (GRCh38): ENSG00000138592
EnsemblGeneIds (GRCh37): ENSG00000138592
OMIM: 603158, Gene2Phenotype
USP8 is in 2 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

A single family reported and a zebrafish model with a movement disorder.
Created: 19 Apr 2020, 11:27 a.m. | Last Modified: 19 Apr 2020, 11:27 a.m.
Panel Version: 0.76

Phenotypes
Hereditary spastic paraplegia

Publications

Created: 19 Apr 2020, 11:27 a.m.
Last Modified: 19 Apr 2020, 11:27 a.m.
Panel version: 0.76

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Complicated hereditary spastic paraplegia
OMIM
603158
Clinvar variants
Variants in USP8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Mar 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: usp8 has been classified as Amber List (Moderate Evidence).

31 Dec 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: USP8 was added gene: USP8 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital Mode of inheritance for gene: USP8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: USP8 were set to 24482476 Phenotypes for gene: USP8 were set to Complicated hereditary spastic paraplegia