| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Optic neuropathy v4.5 | UCHL1 | Sarah Leigh Tag Q3_23_MOI tag was added to gene: UCHL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v4.5 | UCHL1 | Sarah Leigh reviewed gene: UCHL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23359680, 28007905, 35986737; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v4.5 | UCHL1 | Sarah Leigh 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v4.4 | UCHL1 | Sarah Leigh 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v4.3 | UCHL1 | Sarah Leigh Publications for gene: UCHL1 were set to 29735986; 23359680; 28007905 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.58 | UCHL1 | Ivone Leong Tag for-review was removed from gene: UCHL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.58 | UCHL1 | Ivone Leong commented on gene: UCHL1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.57 | UCHL1 |
Ivone Leong Source Expert Review Green was added to UCHL1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Optic neuropathy v2.5 | UCHL1 | Ivone Leong Classified gene: UCHL1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.5 | UCHL1 | Ivone Leong Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.5 | UCHL1 | Ivone Leong Gene: uchl1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.4 | UCHL1 | Ivone Leong Tag for-review tag was added to gene: UCHL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.4 | UCHL1 | Ivone Leong Phenotypes for gene: UCHL1 were changed from Spastic paraplegia 79, autosomal recessive (MIM#615491) to Spastic paraplegia 79, autosomal recessive, 615491 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.3 | UCHL1 |
Zornitza Stark 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 Added comment: 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 list |
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