Optic neuropathy
Gene: UCHL1
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
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
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
Tag Q3_23_MOI tag was added to gene: UCHL1.
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
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
Publications for gene: UCHL1 were set to 29735986; 23359680; 28007905
Tag for-review was removed from gene: UCHL1.
Source Expert Review Green was added to UCHL1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: uchl1 has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: UCHL1.
Phenotypes for gene: UCHL1 were changed from Spastic paraplegia 79, autosomal recessive (MIM#615491) to Spastic paraplegia 79, autosomal recessive, 615491
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