Optic neuropathy
Gene: UCHL1EnsemblGeneIds (GRCh38): ENSG00000154277
EnsemblGeneIds (GRCh37): ENSG00000154277
OMIM: 191342, Gene2Phenotype
UCHL1 is in 10 panels
4 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.Created: 6 Dec 2024, 12:04 p.m. | Last Modified: 6 Dec 2024, 12:04 p.m.
Panel Version: 4.40
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sarah Leigh (Genomics England Curator)
Optical atrophy has been reported in both Spastic paraplegia 79A, autosomal dominant, OMIM:620221 and Spastic paraplegia 79B, autosomal recessive, OMIM:615491, therefore, the mode of inheritance for this gene should be: BOTH monoallelic and biallelic, autosomal or pseudoautosomal.Created: 28 Jul 2023, 10:44 a.m. | Last Modified: 28 Jul 2023, 10:44 a.m.
Panel Version: 4.5
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications
Ivone Leong (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 8 Mar 2022, 10:01 a.m. | Last Modified: 8 Mar 2022, 10:01 a.m.
Panel Version: 2.58
Comment on list classification: New gene added by Zornitza Stark. Based on provided evidence there is enough evidence to support a gene-disease association and Green status. However, this gene is currently rated Amber and tagged with "for-review" until the next major review at which point this gene should be made Green.Created: 13 Jul 2020, 1:25 p.m. | Last Modified: 13 Jul 2020, 1:25 p.m.
Panel Version: 2.5
Zornitza Stark (Australian Genomics)
Three families reported, optic atrophy is a consistent feature and onset of OA preceded onset of other neurological features in at least some of the reported individuals.
Sources: Expert listCreated: 16 Apr 2020, 12:40 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 79, autosomal recessive (MIM#615491)
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- 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
-
- Childhood onset hereditary spastic paraplegia
- Hereditary ataxia with onset in adulthood
- Parkinson Disease and Complex Parkinsonism
- Adult onset dystonia, chorea or related movement disorder
- Hereditary neuropathy or pain disorder
- Ataxia and cerebellar anomalies - narrow panel
- Optic neuropathy
- Hereditary ataxia
- Adult onset hereditary spastic paraplegia
- Adult onset neurodegenerative disorder
History Filter Activity
Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q3_23_MOI was removed from gene: UCHL1.
Added New Source, Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)Source NHS GMS 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
Added Tag
Sarah Leigh (Genomics England Curator)Tag Q3_23_MOI tag was added to gene: UCHL1.
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; Spastic paraplegia 79A, autosomal dominant, OMIM:620221 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
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: UCHL1 were changed from Spastic paraplegia 79, autosomal recessive, 615491 to Spastic paraplegia 79, autosomal recessive, OMIM:615491; early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome, MONDO:0014209; Spastic paraplegia 79A, autosomal dominant, OMIM:620221
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: UCHL1 were set to 29735986; 23359680; 28007905
Removed Tag
Ivone Leong (Genomics England Curator)Tag for-review was removed from gene: UCHL1.
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Green was added to UCHL1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: uchl1 has been classified as Amber List (Moderate Evidence).
Added Tag
Ivone Leong (Genomics England Curator)Tag for-review tag was added to gene: UCHL1.
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: UCHL1 were changed from Spastic paraplegia 79, autosomal recessive (MIM#615491) to Spastic paraplegia 79, autosomal recessive, 615491
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)gene: UCHL1 was added gene: UCHL1 was added to Optic neuropathy. Sources: Expert list Mode of inheritance for gene: UCHL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UCHL1 were set to 29735986; 23359680; 28007905 Phenotypes for gene: UCHL1 were set to Spastic paraplegia 79, autosomal recessive (MIM#615491) Review for gene: UCHL1 was set to GREEN