Genes in panel

Adult onset movement disorder

Gene: UCHL1

Amber List (moderate evidence)

UCHL1 (ubiquitin C-terminal hydrolase L1)
EnsemblGeneIds (GRCh38): ENSG00000154277
EnsemblGeneIds (GRCh37): ENSG00000154277
OMIM: 191342, Gene2Phenotype
UCHL1 is in 8 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating from Emily Jones (North Bristol NHS Trust) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 12:18 p.m.

Emily Jones (North Bristol NHS Trust)

I don't know

Single family only for association with PD. Three families reported with SPG79, which can include ataxia/tremor.
Created: 23 Apr 2019, 12:14 p.m.

Phenotypes
Spastic paraplegia 79, autosomal recessive, 615491; ?{Parkinson disease 5, susceptibility to}, 613643

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
  • South West GLH
Phenotypes
  • ?{Parkinson disease 5, susceptibility to}
  • ?{Parkinson disease 5, susceptibility to}, 613643
  • Spastic paraplegia 79, autosomal recessive, 615491
OMIM
191342
Clinvar variants
Variants in UCHL1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Apr 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: uchl1 has been classified as Amber List (Moderate Evidence).

23 Apr 2019, Gel status: 1

Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Added phenotypes ?{Parkinson disease 5, susceptibility to}, 613643; Spastic paraplegia 79, autosomal recessive, 615491 for gene: UCHL1 Publications for gene UCHL1 were changed from to 28007905; 23359680; 29735986; 10048490

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to UCHL1.

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to UCHL1.

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: UCHL1 was added gene: UCHL1 was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: UCHL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: UCHL1 were set to ?{Parkinson disease 5, susceptibility to}