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Childhood onset hereditary spastic paraplegia v2.63 NT5C2 Arina Puzriakova Publications for gene: NT5C2 were set to 19415352; 24482476; 2832708; 28884889; 29123918; 32153630
Childhood onset hereditary spastic paraplegia v2.62 NT5C2 Arina Puzriakova Publications for gene: NT5C2 were set to 28327087; 28884889; 24482476; 29123918
Childhood onset hereditary spastic paraplegia v1.164 NT5C2 Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.75 NT5C2 Louise Daugherty Source Yorkshire and North East GLH was added to NT5C2.
Childhood onset hereditary spastic paraplegia v1.74 NT5C2 Nick Beauchamp reviewed gene: NT5C2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24482476, 28327087, 28884889, 29123918; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 NT5C2 Louise Daugherty commented on gene: NT5C2: 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 NT5C2 Louise Daugherty reviewed gene: NT5C2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.6 NT5C2 James Polke reviewed gene: NT5C2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 45, autosomal recessive, 613162, AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.5 NT5C2 Louise Daugherty Source NHS GMS was added to NT5C2.
Childhood onset hereditary spastic paraplegia v1.4 NT5C2 Louise Daugherty Source London North GLH was added to NT5C2.
Childhood onset hereditary spastic paraplegia v1.3 NT5C2 Louise Daugherty Added phenotypes Spastic paraplegia 45, autosomal recessive, 613162 for gene: NT5C2
Publications for gene NT5C2 were changed from 29123918; 28884889; 24482476; 28327087 to 28327087; 28884889; 24482476; 29123918
Rating Changed from Green List (high evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v1.2 NT5C2 Rebecca Foulger Classified gene: NT5C2 as Green List (high evidence)
Childhood onset hereditary spastic paraplegia v1.2 NT5C2 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green; rating was updated from Red to Green on the 'Hereditary spastic paraplegia' panel after curation from Sarah Leigh and advice from Helen Brittain. Plus literature confirms a childhood onset of HSP: In PMID:28884889, 3 family members developed HSP symptoms at under 1 year. In PMID:28327087, two brothers from a Consanguineous Qatari family age 9 and 3 years with complex HSP had an early-onset phenotype. PMID:29123918 describe an infantile-onset form of recessive HSP.
Childhood onset hereditary spastic paraplegia v1.2 NT5C2 Rebecca Foulger Gene: nt5c2 has been classified as Green List (High Evidence).
Childhood onset hereditary spastic paraplegia v1.1 NT5C2 Rebecca Foulger Phenotypes for gene: NT5C2 were changed from Spasticparaplegia45, autosomal recessive 613162 to Spastic paraplegia 45, autosomal recessive, 613162
Childhood onset hereditary spastic paraplegia v0.6 NT5C2 Sarah Leigh gene: NT5C2 was added
gene: NT5C2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Red
Mode of inheritance for gene: NT5C2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NT5C2 were set to 29123918; 28884889; 24482476; 28327087
Phenotypes for gene: NT5C2 were set to Spasticparaplegia45, autosomal recessive 613162