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Adult onset dystonia, chorea or related movement disorder v3.6 UCHL1 Sarah Leigh Mode of inheritance for gene: UCHL1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset dystonia, chorea or related movement disorder v3.5 UCHL1 Sarah Leigh changed review comment from: 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).; to: 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). However, dystonia was only reported in one case in this study (Table 5S).
Adult onset dystonia, chorea or related movement disorder v3.5 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; ?{Parkinson disease 5, susceptibility to}, OMIM:613643; Parkinson disease 5, autosomal dominant, susceptibility to' MONDO:0013340 to {?Parkinson disease 5, susceptibility to}, OMIM:613643; Parkinson disease 5, autosomal dominant, susceptibility to, MONDO:0013340; 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 dystonia, chorea or related movement disorder v2.5 UCHL1 Sarah Leigh reviewed gene: UCHL1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset dystonia, chorea or related movement disorder v2.5 UCHL1 Sarah Leigh Phenotypes for gene: UCHL1 were changed from {?Parkinson disease 5, susceptibility to}, OMIM:613643 to Spastic paraplegia 79, autosomal recessive, OMIM:615491; early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome, MONDO:0014209; ?{Parkinson disease 5, susceptibility to}, OMIM:613643; Parkinson disease 5, autosomal dominant, susceptibility to' MONDO:0013340
Adult onset dystonia, chorea or related movement disorder v2.4 UCHL1 Sarah Leigh Publications for gene: UCHL1 were set to 28007905; 23359680; 29735986; 10048490
Adult onset dystonia, chorea or related movement disorder v1.109 UCHL1 Arina Puzriakova Phenotypes for gene: UCHL1 were changed from ?{Parkinson disease 5, susceptibility to}; ?{Parkinson disease 5, susceptibility to}, 613643; Spastic paraplegia 79, autosomal recessive, 615491 to {?Parkinson disease 5, susceptibility to}, OMIM:613643
Adult onset dystonia, chorea or related movement disorder v0.71 UCHL1 Louise Daugherty Classified gene: UCHL1 as Amber List (moderate evidence)
Adult onset dystonia, chorea or related movement disorder v0.71 UCHL1 Louise Daugherty Gene: uchl1 has been classified as Amber List (Moderate Evidence).
Adult onset dystonia, chorea or related movement disorder v0.50 UCHL1 Louise Daugherty reviewed gene: UCHL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.49 UCHL1 Emily Jones reviewed gene: UCHL1: Rating: AMBER; Mode of pathogenicity: ; Publications: 10048490, 28007905 , 29735986, 23359680 ; Phenotypes: Spastic paraplegia 79, autosomal recessive, 615491, ?{Parkinson disease 5, susceptibility to}, 613643; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.48 UCHL1 Louise Daugherty Added phenotypes ?{Parkinson disease 5, susceptibility to}, 613643; Spastic paraplegia 79, autosomal recessive, 615491 for gene: UCHL1
Publications for gene UCHL1 were changed from to 28007905; 23359680; 29735986; 10048490
Adult onset dystonia, chorea or related movement disorder v0.47 UCHL1 Louise Daugherty Source NHS GMS was added to UCHL1.
Adult onset dystonia, chorea or related movement disorder v0.46 UCHL1 Louise Daugherty Source South West GLH was added to UCHL1.
Adult onset dystonia, chorea or related movement disorder v0.2 UCHL1 Ellen McDonagh gene: UCHL1 was added
gene: UCHL1 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: UCHL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: UCHL1 were set to ?{Parkinson disease 5, susceptibility to}