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Adult onset hereditary spastic paraplegia v4.3 UCHL1 Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: UCHL1.
Tag Q3_23_MOI was removed from gene: UCHL1.
Adult onset hereditary spastic paraplegia v4.3 UCHL1 Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set to'BOTH monoallelic and biallelic, autosomal or pseudoautosomal'following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Adult onset hereditary spastic paraplegia v4.3 UCHL1 Achchuthan Shanmugasundram reviewed gene: UCHL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v4.2 UCHL1 Achchuthan Shanmugasundram 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)
Adult onset hereditary spastic paraplegia v3.13 UCHL1 Sarah Leigh Classified gene: UCHL1 as Amber List (moderate evidence)
Adult onset hereditary spastic paraplegia v3.13 UCHL1 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Adult onset hereditary spastic paraplegia v3.13 UCHL1 Sarah Leigh Gene: uchl1 has been classified as Amber List (Moderate Evidence).
Adult onset hereditary spastic paraplegia v3.12 UCHL1 Sarah Leigh Tag Q3_23_promote_green tag was added to gene: UCHL1.
Tag Q3_23_MOI tag was added to gene: UCHL1.
Adult onset hereditary spastic paraplegia v3.12 UCHL1 Sarah Leigh edited their review of gene: UCHL1: Added comment: Spasticity was reported in at least six families carrying heterozygous UCHL1 variants (PMID: 35986737, figure 2 & table S5). Overall, the disease onset for Spastic paraplegia 79A, autosomal dominant, OMIM:620221 had a median of 49 years (12-70years).; Changed rating: GREEN; Changed publications to: 35986737
Adult onset hereditary spastic paraplegia v3.12 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
Adult onset hereditary spastic paraplegia v3.11 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 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
Adult onset hereditary spastic paraplegia v2.5 UCHL1 Sarah Leigh 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
Adult onset hereditary spastic paraplegia v2.4 UCHL1 Sarah Leigh edited their review of gene: UCHL1: Added comment: 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).; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v2.4 UCHL1 Sarah Leigh Publications for gene: UCHL1 were set to 23359680; 28007905; 29735986; 32656641
Adult onset hereditary spastic paraplegia v1.95 UCHL1 Ivone Leong Tag Q2_21_expert_review was removed from gene: UCHL1.
Adult onset hereditary spastic paraplegia v1.95 UCHL1 Sarah Leigh commented on gene: UCHL1
Adult onset hereditary spastic paraplegia v1.94 UCHL1 Ivone Leong Source Expert Review Amber was added to UCHL1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Adult onset hereditary spastic paraplegia v1.19 UCHL1 Arina Puzriakova Phenotypes for gene: UCHL1 were changed from Spastic paraplegia 79, autosomal recessive, 615491, AR to Spastic paraplegia 79, autosomal recessive, OMIM:615491
Adult onset hereditary spastic paraplegia v1.18 UCHL1 Arina Puzriakova Publications for gene: UCHL1 were set to 29735986; 28007905; 23359680
Adult onset hereditary spastic paraplegia v1.17 UCHL1 Arina Puzriakova Tag Q2_21_expert_review tag was added to gene: UCHL1.
Adult onset hereditary spastic paraplegia v1.17 UCHL1 Arina Puzriakova reviewed gene: UCHL1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23359680, 28007905, 29735986, 32656641; Phenotypes: Spastic paraplegia 79, autosomal recessive, OMIM:615491; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v1.7 UCHL1 Zornitza Stark reviewed gene: UCHL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Adult onset hereditary spastic paraplegia v0.148 UCHL1 Louise Daugherty commented on gene: UCHL1: 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.
Adult onset hereditary spastic paraplegia v0.146 UCHL1 Louise Daugherty Deleted their comment
Adult onset hereditary spastic paraplegia v0.134 UCHL1 Louise Daugherty Publications for gene: UCHL1 were set to
Adult onset hereditary spastic paraplegia v0.54 UCHL1 Louise Daugherty Source Yorkshire and North East GLH was added to UCHL1.
Adult onset hereditary spastic paraplegia v0.53 UCHL1 Nick Beauchamp reviewed gene: UCHL1: Rating: AMBER; Mode of pathogenicity: None; Publications: 29735986, 28007905, 23359680; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.53 UCHL1 Louise Daugherty commented on gene: UCHL1: 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.
Adult onset hereditary spastic paraplegia v0.41 UCHL1 Louise Daugherty Mode of inheritance for gene: UCHL1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.6 UCHL1 Louise Daugherty reviewed gene: UCHL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.5 UCHL1 James Polke reviewed gene: UCHL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 79, autosomal recessive, 615491, AR; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.4 UCHL1 Louise Daugherty 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)
Adult onset hereditary spastic paraplegia v0.3 UCHL1 Louise Daugherty Source NHS GMS was added to UCHL1.
Adult onset hereditary spastic paraplegia v0.2 UCHL1 Louise Daugherty 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