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Severe Paediatric Disorders v1.162 UCHL1 Sarah Leigh Mode of inheritance for gene: UCHL1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v1.161 UCHL1 Sarah Leigh reviewed gene: UCHL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v1.161 UCHL1 Sarah Leigh Phenotypes for gene: UCHL1 were changed from Spastic paraplegia 79, autosomal recessive, 615491 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
Severe Paediatric Disorders v1.160 UCHL1 Sarah Leigh Publications for gene: UCHL1 were set to 30847515
Severe Paediatric Disorders v0.12 UCHL1 Louise Daugherty reviewed gene: UCHL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 UCHL1 Louise Daugherty Publications for gene UCHL1 were updated from to 30847515
Severe Paediatric Disorders v0.10 UCHL1 Louise Daugherty Added phenotypes Spastic paraplegia 79, autosomal recessive, 615491 for gene: UCHL1
Severe Paediatric Disorders v0.9 UCHL1 Louise Daugherty Added phenotypes Spastic paraplegia 79, autosomal recessive, 615491 for gene: UCHL1
Severe Paediatric Disorders v0.9 UCHL1 Louise Daugherty Added phenotypes Spastic paraplegia 79, autosomal recessive, 615491 for gene: UCHL1
Severe Paediatric Disorders v0.8 UCHL1 Louise Daugherty Added phenotypes Spastic paraplegia 79, autosomal recessive, 615491 for gene: UCHL1
Severe Paediatric Disorders v0.8 UCHL1 Louise Daugherty Mode of inheritance for gene UCHL1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Spastic paraplegia 79, autosomal recessive, 615491 for gene: UCHL1
Severe Paediatric Disorders v0.7 UCHL1 Louise Daugherty Source Next Generation Children Project was added to UCHL1.
Severe Paediatric Disorders v0.5 UCHL1 Louise Daugherty Source Expert Review Green was added to UCHL1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 UCHL1 Louise Daugherty gene: UCHL1 was added
gene: UCHL1 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: UCHL1 was set to