Hereditary spastic paraplegia - childhood onset

Gene: USP8

Red List (low evidence)

USP8 (ubiquitin specific peptidase 8)
EnsemblGeneIds (GRCh38): ENSG00000138592
EnsemblGeneIds (GRCh37): ENSG00000138592
OMIM: 603158, Gene2Phenotype
USP8 is in 4 panels

1 review

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

Red List (low evidence)

Single family, childhood onset. No additional patients identified using Sheffield panel.
Created: 10 May 2019, 1:09 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
OMIM
603158
Clinvar variants
Variants in USP8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 May 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: USP8 were set to Novarino et al. (2014)

13 May 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to USP8.

13 May 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to USP8.

28 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Rebecca Foulger: Comment on list classification

19 Dec 2018, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

gene: USP8 was added gene: USP8 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list,Expert Review Red Mode of inheritance for gene: USP8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: USP8 were set to Novarino et al. (2014)