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Hereditary ataxia with onset in adulthood
Gene: UCHL1

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

6 reviews

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 2 May 2024, 12:48 p.m. | Last Modified: 2 May 2024, 12:48 p.m.

Panel Version: 5.3

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Created: 2 May 2024, 12:48 p.m.
Last Modified: 2 May 2024, 12:48 p.m.
Panel version: 5.3

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 28 Jul 2023, 11:47 a.m. | Last Modified: 28 Jul 2023, 11:47 a.m.

Panel Version: 4.17

In addition to previous reports of Spastic paraplegia 79, autosomal recessive (OMIM:615491), PMID: 35986737 reports a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy in cases with heterozygous UCHL1 variants. The variants included 13 heterozygous loss-of-function variants (15 families) and a heterozygous in-frame insertion (3 families). The affected individuals mainly presented with spasticity (24/31), ataxia (28/31), neuropathy (11/21), and optic atrophy (9/17), it was also noted in PMID: 35986737 that the condition onset in dominant cases was median 49 years (12-70 years) and in recessive was 7.5 years (2-10 years).
Created: 17 Jan 2023, 3:20 p.m. | Last Modified: 28 Jul 2023, 11:46 a.m.

Panel Version: 4.16

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 9 Mar 2022, 5:26 p.m. | Last Modified: 9 Mar 2022, 5:26 p.m.

Panel Version: 2.144

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Created: 9 Mar 2022, 5:26 p.m.
Last Modified: 28 Jul 2023, 11:46 a.m.
Panel version: 4.16

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 ataxia becomes apparent later in the clinical course (PMIDs: 23359680; 28007905; 29735986; 32656641). Inclusion may be justified to ensure that edge cases may be identified.
Created: 11 May 2021, 10:31 a.m. | Last Modified: 11 May 2021, 10:36 a.m.

Panel Version: 2.44

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 79, autosomal recessive, OMIM:615491

Publications

Created: 11 May 2021, 10:31 a.m.
Last Modified: 11 May 2021, 10:36 a.m.
Panel version: 2.42

Zornitza Stark (Australian Genomics)

Red List (low evidence)

This is a paediatric onset disorder.
Created: 13 Sep 2020, 8 a.m. | Last Modified: 13 Sep 2020, 8 a.m.

Panel Version: 2.9

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 79, autosomal recessive, MIM#615491

Publications

Created: 13 Sep 2020, 8 a.m.
Last Modified: 13 Sep 2020, 8 a.m.
Panel version: 2.9

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.
Created: 15 Apr 2019, 10:21 a.m.

Created: 15 Apr 2019, 10:21 a.m.

Panel version: 1.8

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Looks like across the three papers we have sufficient families with functional evidence for some variants. Cerebellar abnormalities a feature in affected individuals
Created: 15 Apr 2019, 10:06 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Autosomal recessive spastic paraplegia 79, 615491

Created: 15 Apr 2019, 10:06 a.m.

Panel version: 1.7

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS
Wessex and West Midlands GLH
Hereditary ataxia v1.148

Phenotypes

Spastic paraplegia 79B, autosomal recessive, OMIM:615491
early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome, MONDO:0014209
Spastic paraplegia 79A, autosomal dominant, OMIM:620221

OMIM

191342

Clinvar variants

Variants in UCHL1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

2 May 2024, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_23_promote_green was removed from gene: UCHL1. Tag Q3_23_MOI was removed from gene: UCHL1.

2 May 2024, Gel status: 3

Added New Source, Set mode of inheritance, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to UCHL1. Mode of inheritance for gene UCHL1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

28 Jul 2023, Gel status: 2

Added Tag, Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_23_promote_green tag was added to gene: UCHL1. Tag Q3_23_MOI tag was added to gene: UCHL1.

28 Jul 2023, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

28 Jul 2023, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: UCHL1 were changed from Spastic paraplegia 79, autosomal recessive, OMIM:615491; early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome, MONDO:0014209 to Spastic paraplegia 79B, autosomal recessive, OMIM:615491; early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome, MONDO:0014209; Spastic paraplegia 79A, autosomal dominant, OMIM:620221

17 Jan 2023, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: UCHL1 were changed from Spastic paraplegia 79, autosomal recessive, OMIM:615491 to Spastic paraplegia 79, autosomal recessive, OMIM:615491; early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome, MONDO:0014209

17 Jan 2023, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: UCHL1 were set to 23359680; 28007905; 29735986; 32656641

9 Mar 2022, Gel status: 2

Removed Tag

Eleanor Williams (Genomics England Curator)

Tag Q2_21_expert_review was removed from gene: UCHL1.

9 Mar 2022, Gel status: 2

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Amber was added to UCHL1. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

11 May 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: UCHL1 were changed from Early onset ataxia and optic neuropathy; Autosomal recessive spastic paraplegia 79, 615491 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 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.

27 Apr 2019, Gel status: 3