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Childhood onset hereditary spastic paraplegia v6.3 RTN2 Achchuthan Shanmugasundram Tag Q2_24_MOI was removed from gene: RTN2.
Tag Q2_24_NHS_review was removed from gene: RTN2.
Childhood onset hereditary spastic paraplegia v6.3 RTN2 Achchuthan Shanmugasundram commented on gene: RTN2: 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 v6.2 RTN2 Achchuthan Shanmugasundram Mode of inheritance for gene RTN2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v4.42 RTN2 Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: As there are sufficient number of cases with biallelic variants and lower limb spasticity, the MOI should be updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' in the next GMS update.
Childhood onset hereditary spastic paraplegia v4.42 RTN2 Achchuthan Shanmugasundram Mode of inheritance for gene: RTN2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood onset hereditary spastic paraplegia v4.41 RTN2 Achchuthan Shanmugasundram Phenotypes for gene: RTN2 were changed from Spastic paraplegia 12, autosomal dominant, 604805 to Spastic paraplegia 12, autosomal dominant, OMIM:604805; distal hereditary motor neuropathy, MONDO:0018894; Lower limb spasticity, HP:0002061
Childhood onset hereditary spastic paraplegia v4.40 RTN2 Achchuthan Shanmugasundram Publications for gene: RTN2 were set to 22232211; 24123792; 28362824
Childhood onset hereditary spastic paraplegia v4.39 RTN2 Achchuthan Shanmugasundram Tag Q2_24_MOI tag was added to gene: RTN2.
Tag Q2_24_NHS_review tag was added to gene: RTN2.
Childhood onset hereditary spastic paraplegia v4.39 RTN2 Achchuthan Shanmugasundram reviewed gene: RTN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 38527963; Phenotypes: distal hereditary motor neuropathy, MONDO:0018894, Lower limb spasticity, HP:0002061; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v4.39 RTN2 Nour Elkhateeb reviewed gene: RTN2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38527963; Phenotypes: Weakness in the distal upper and lower limbs, Lower limb spasticity, Hyperreflexia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.164 RTN2 Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.111 RTN2 Louise Daugherty Publications for gene: RTN2 were set to 22232211
Childhood onset hereditary spastic paraplegia v1.75 RTN2 Louise Daugherty Source Yorkshire and North East GLH was added to RTN2.
Childhood onset hereditary spastic paraplegia v1.74 RTN2 Nick Beauchamp reviewed gene: RTN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22232211, 24123792, 28362824; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 RTN2 Louise Daugherty commented on gene: RTN2: 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 RTN2 Louise Daugherty reviewed gene: RTN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.6 RTN2 James Polke reviewed gene: RTN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 12, autosomal dominant, 604805; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood onset hereditary spastic paraplegia v1.5 RTN2 Louise Daugherty Source NHS GMS was added to RTN2.
Childhood onset hereditary spastic paraplegia v1.4 RTN2 Louise Daugherty Source London North GLH was added to RTN2.
Childhood onset hereditary spastic paraplegia v1.3 RTN2 Louise Daugherty Added phenotypes Spastic paraplegia 12, autosomal dominant, 604805 for gene: RTN2
Childhood onset hereditary spastic paraplegia v0.125 RTN2 Louise Daugherty Publications for gene: RTN2 were set to Montenegro et al. (2012)
Childhood onset hereditary spastic paraplegia v0.124 RTN2 Louise Daugherty Phenotypes for gene: RTN2 were changed from Spastic paraplegia 12, autosomal dominant to Spastic paraplegia 12, autosomal dominant, 604805
Childhood onset hereditary spastic paraplegia v0.62 RTN2 Arianna Tucci commented on gene: RTN2: Onset of SPG12 usually in the first decade
Childhood onset hereditary spastic paraplegia v0.62 RTN2 Arianna Tucci commented on gene: RTN2
Childhood onset hereditary spastic paraplegia v0.6 RTN2 Sarah Leigh gene: RTN2 was added
gene: RTN2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: RTN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RTN2 were set to Montenegro et al. (2012)
Phenotypes for gene: RTN2 were set to Spastic paraplegia 12, autosomal dominant