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Adult onset hereditary spastic paraplegia v1.95 SERAC1 Ivone Leong Tag Q3_21_phenotype was removed from gene: SERAC1.
Adult onset hereditary spastic paraplegia v1.95 SERAC1 Sarah Leigh commented on gene: SERAC1
Adult onset hereditary spastic paraplegia v1.94 SERAC1 Ivone Leong Source Expert Review Amber was added to SERAC1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Adult onset hereditary spastic paraplegia v1.88 SERAC1 Ivone Leong Tag Q3_21_phenotype tag was added to gene: SERAC1.
Adult onset hereditary spastic paraplegia v1.47 SERAC1 Arina Puzriakova changed review comment from: Review of literature did not reveal any adult onset cases - disorder presents at birth and severe spasticity becomes apparent, typically with disease progression during the infantile or childhood period.

The 'Q3_21_phenotype' tag has been added to highlight that this is a childhood onset condition. Leaving the rating as Green, but with a recommendation for review at the next GMS panel update. This gene is already Green on the 'Hereditary spastic paraplegia - childhood onset v.2.18' panel.; to: Review of literature did not reveal any adult onset cases - disorder presents at birth and severe spasticity becomes apparent, typically with disease progression, during the infantile or childhood period.

The 'Q3_21_phenotype' tag has been added to highlight that this is a childhood onset condition. Leaving the rating as Green, but with a recommendation for review at the next GMS panel update. This gene is already Green on the 'Hereditary spastic paraplegia - childhood onset v.2.18' panel.
Adult onset hereditary spastic paraplegia v1.47 SERAC1 Arina Puzriakova reviewed gene: SERAC1: Rating: ; Mode of pathogenicity: None; Publications: 16527507, 22683713, 23918762, 27186703, 28778788, 29205472; Phenotypes: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, OMIM:614739; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v1.47 SERAC1 Arina Puzriakova Phenotypes for gene: SERAC1 were changed from MEGDEL syndrome; 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome; 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, Autosomal dominant, 614739; MEGDHEL syndrome to 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, OMIM:614739
Adult onset hereditary spastic paraplegia v1.7 SERAC1 Zornitza Stark reviewed gene: SERAC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Adult onset hereditary spastic paraplegia v0.148 SERAC1 Louise Daugherty commented on gene: SERAC1: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Adult onset hereditary spastic paraplegia v0.146 SERAC1 Louise Daugherty Deleted their comment
Adult onset hereditary spastic paraplegia v0.124 SERAC1 Louise Daugherty Publications for gene: SERAC1 were set to
Adult onset hereditary spastic paraplegia v0.54 SERAC1 Louise Daugherty Source Yorkshire and North East GLH was added to SERAC1.
Adult onset hereditary spastic paraplegia v0.53 SERAC1 Nick Beauchamp reviewed gene: SERAC1: Rating: AMBER; Mode of pathogenicity: None; Publications: 29205472, 22683713, 16527507, 28482397, 28778788, 27186703, 27604308; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.53 SERAC1 Louise Daugherty commented on gene: SERAC1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.6 SERAC1 Louise Daugherty reviewed gene: SERAC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.5 SERAC1 James Polke reviewed gene: SERAC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, Autosomal dominant, 614739, MEGDEL syndrome, 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome, MEGDHEL syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.4 SERAC1 Louise Daugherty Source Expert Review Green was added to SERAC1.
Mode of inheritance for gene SERAC1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes MEGDHEL syndrome; MEGDEL syndrome; 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, Autosomal dominant, 614739; 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome for gene: SERAC1
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.3 SERAC1 Louise Daugherty Source NHS GMS was added to SERAC1.
Adult onset hereditary spastic paraplegia v0.2 SERAC1 Louise Daugherty gene: SERAC1 was added
gene: SERAC1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: SERAC1 was set to