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Childhood onset hereditary spastic paraplegia v5.3 UCHL1 Achchuthan Shanmugasundram Tag Q3_23_MOI was removed from gene: UCHL1.
Childhood onset hereditary spastic paraplegia v5.3 UCHL1 Achchuthan Shanmugasundram changed review comment from: The mode of inheritance of this gene has been updated toBOTH monoallelic and biallelic, autosomal or pseudoautosomalfollowing NHS Genomic Medicine Service approval.; to: The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Childhood onset hereditary spastic paraplegia v5.3 UCHL1 Achchuthan Shanmugasundram reviewed gene: UCHL1: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v5.2 UCHL1 Achchuthan Shanmugasundram Mode of inheritance for gene UCHL1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v4.15 UCHL1 Sarah Leigh Tag Q3_23_MOI tag was added to gene: UCHL1.
Childhood onset hereditary spastic paraplegia v4.15 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
Childhood onset hereditary spastic paraplegia v4.15 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
Childhood onset hereditary spastic paraplegia v4.14 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; Spastic paraplegia 79A, autosomal dominant, OMIM:620221
Childhood onset hereditary spastic paraplegia v4.11 UCHL1 Sarah Leigh Publications for gene: UCHL1 were set to 23359680; 28007905; 29735986; 32656641; 11555633; 33159930
Childhood onset hereditary spastic paraplegia v2.32 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
Childhood onset hereditary spastic paraplegia v2.31 UCHL1 Arina Puzriakova Publications for gene: UCHL1 were set to 29735986; 28007905; 23359680
Childhood onset hereditary spastic paraplegia v1.164 UCHL1 Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.100 UCHL1 Louise Daugherty Publications for gene: UCHL1 were set to
Childhood onset hereditary spastic paraplegia v1.75 UCHL1 Louise Daugherty Source Yorkshire and North East GLH was added to UCHL1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v1.74 UCHL1 Nick Beauchamp reviewed gene: UCHL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29735986, 28007905, 23359680; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.74 UCHL1 Louise Daugherty commented on gene: UCHL1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.48 UCHL1 Louise Daugherty reviewed gene: UCHL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.38 UCHL1 Louise Daugherty Phenotypes for gene: UCHL1 were changed from to Spastic paraplegia 79, autosomal recessive, 615491, AR
Childhood onset hereditary spastic paraplegia v1.37 UCHL1 Louise Daugherty Mode of inheritance for gene: UCHL1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.36 UCHL1 Louise Daugherty Classified gene: UCHL1 as Green List (high evidence)
Childhood onset hereditary spastic paraplegia v1.36 UCHL1 Louise Daugherty Gene: uchl1 has been classified as Green List (High Evidence).
Childhood onset hereditary spastic paraplegia v1.6 UCHL1 James Polke reviewed gene: UCHL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 79, autosomal recessive, 615491, AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.5 UCHL1 Louise Daugherty Source NHS GMS was added to UCHL1.
Childhood onset hereditary spastic paraplegia v1.4 UCHL1 Louise Daugherty gene: UCHL1 was added
gene: UCHL1 was added to Hereditary spastic paraplegia - childhood onset. Sources: London North GLH
Mode of inheritance for gene: UCHL1 was set to