Hereditary spastic paraplegia - adult onset

Gene: UCHL1

Green List (high evidence)

UCHL1 (ubiquitin C-terminal hydrolase L1)
EnsemblGeneIds (GRCh38): ENSG00000154277
EnsemblGeneIds (GRCh37): ENSG00000154277
OMIM: 191342, Gene2Phenotype
UCHL1 is in 10 panels

5 reviews

Arina Puzriakova (Genomics England Curator)

I don't know

Tagged for GMS expert review (Q2_21) to seek opinion on whether this gene rating needs to be changed. Ten individuals from four families have been reported with a childhood-onset neurodegenerative disorder and different biallelic variants in this gene. Age of onset ranges from 2 to 10 years, however visual loss appears to be one of the first presenting features in most cases and spasticity becomes apparent later in the clinical course but still mostly within the childhood-adolescence age range (PMIDs: 23359680; 28007905; 29735986; 32656641). Inclusion may be justified to ensure that edge cases may be identified.
Created: 11 May 2021, 10:42 a.m. | Last Modified: 11 May 2021, 10:42 a.m.
Panel Version: 1.17

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 79, autosomal recessive, OMIM:615491

Publications

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Childhood onset.
Created: 22 Sep 2020, 5:28 a.m. | Last Modified: 22 Sep 2020, 5:28 a.m.
Panel Version: 1.7

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

I don't know

Three families described. Childhood onset. No adult onset cases described.
Created: 10 May 2019, 11:05 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Louise Daugherty (Genomics England Curator)

I don't know

Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Created: 21 May 2019, 4:14 p.m.
Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Created: 9 May 2019, 4:50 p.m.

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

spasticity, cerebellar ataxia, peripheral neuropathy, and myokymia, consistent with systemic neurodegeneration and deficits at the neuromuscular junction.2x 3 sibs in 2 x unrealated families with SPG79
Created: 25 Apr 2019, 1:22 p.m.

Phenotypes
Spastic paraplegia 79, autosomal recessive, 615491, AR

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Yorkshire and North East GLH
  • Expert Review Green
  • NHS GMS
  • London North GLH
Phenotypes
  • Spastic paraplegia 79, autosomal recessive, OMIM:615491
Tags
Q2_21_expert_review
OMIM
191342
Clinvar variants
Variants in UCHL1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 May 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: UCHL1 were changed from Spastic paraplegia 79, autosomal recessive, 615491, AR to Spastic paraplegia 79, autosomal recessive, OMIM:615491

11 May 2021, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: UCHL1 were set to 29735986; 28007905; 23359680

11 May 2021, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_21_expert_review tag was added to gene: UCHL1.

13 May 2019, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: UCHL1 were set to

13 May 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to UCHL1.

27 Apr 2019, Gel status: 4

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: UCHL1 was changed from to BIALLELIC, autosomal or pseudoautosomal

25 Apr 2019, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to UCHL1. Added phenotypes Spastic paraplegia 79, autosomal recessive, 615491, AR for gene: UCHL1 Rating Changed from Red List (low evidence) to Green List (high evidence)

24 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to UCHL1.

24 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: UCHL1 was added gene: UCHL1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: UCHL1 was set to