Activity

Filter

Cancel
Date Panel Item Activity
21 actions
Adult onset hereditary spastic paraplegia v2.21 RAB3GAP2 Achchuthan Shanmugasundram Classified gene: RAB3GAP2 as Amber List (moderate evidence)
Adult onset hereditary spastic paraplegia v2.21 RAB3GAP2 Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene is rated AMBER as all the cases are of childhood-onset.
Adult onset hereditary spastic paraplegia v2.21 RAB3GAP2 Achchuthan Shanmugasundram Gene: rab3gap2 has been classified as Amber List (Moderate Evidence).
Adult onset hereditary spastic paraplegia v2.20 RAB3GAP2 Achchuthan Shanmugasundram Tag Q1_23_promote_green was removed from gene: RAB3GAP2.
Adult onset hereditary spastic paraplegia v2.20 RAB3GAP2 Achchuthan Shanmugasundram Deleted their comment
Adult onset hereditary spastic paraplegia v2.20 RAB3GAP2 Achchuthan Shanmugasundram Tag Q1_23_promote_green tag was added to gene: RAB3GAP2.
Adult onset hereditary spastic paraplegia v2.20 RAB3GAP2 Achchuthan Shanmugasundram Phenotypes for gene: RAB3GAP2 were changed from Warburg micro syndrome 2, OMIM:614225 to Martsolf syndrome 1, OMIM:212720; Warburg micro syndrome 2, OMIM:614225
Adult onset hereditary spastic paraplegia v2.19 RAB3GAP2 Achchuthan Shanmugasundram Publications for gene: RAB3GAP2 were set to 24482476
Adult onset hereditary spastic paraplegia v2.18 RAB3GAP2 Achchuthan Shanmugasundram Classified gene: RAB3GAP2 as Amber List (moderate evidence)
Adult onset hereditary spastic paraplegia v2.18 RAB3GAP2 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (>3 unrelated cases) available for this gene to be considered for a green rating in the next major review.
Adult onset hereditary spastic paraplegia v2.18 RAB3GAP2 Achchuthan Shanmugasundram Gene: rab3gap2 has been classified as Amber List (Moderate Evidence).
Adult onset hereditary spastic paraplegia v2.17 RAB3GAP2 Achchuthan Shanmugasundram reviewed gene: RAB3GAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32740904; Phenotypes: Martsolf syndrome 1, OMIM:212720, Warburg micro syndrome 2, OMIM:614225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v1.88 RAB3GAP2 Arina Puzriakova Phenotypes for gene: RAB3GAP2 were changed from spastic paraplegia; Warburg micro syndrome 2, 614225 to Warburg micro syndrome 2, OMIM:614225
Adult onset hereditary spastic paraplegia v0.119 RAB3GAP2 Louise Daugherty Mode of inheritance for gene: RAB3GAP2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.55 RAB3GAP2 Louise Daugherty Source NHS GMS was added to RAB3GAP2.
Adult onset hereditary spastic paraplegia v0.54 RAB3GAP2 Louise Daugherty Source Yorkshire and North East GLH was added to RAB3GAP2.
Adult onset hereditary spastic paraplegia v0.53 RAB3GAP2 Nick Beauchamp reviewed gene: RAB3GAP2: Rating: RED; Mode of pathogenicity: None; Publications: 24482476; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset hereditary spastic paraplegia v0.42 RAB3GAP2 Louise Daugherty reviewed gene: RAB3GAP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.30 RAB3GAP2 Louise Daugherty Added phenotypes spastic paraplegia; Warburg micro syndrome 2, 614225 for gene: RAB3GAP2
Publications for gene RAB3GAP2 were changed from to 24482476
Adult onset hereditary spastic paraplegia v0.29 RAB3GAP2 Chris Buxton reviewed gene: RAB3GAP2: Rating: RED; Mode of pathogenicity: ; Publications: 24482476; Phenotypes: spastic paraplegia, Warburg micro syndrome 2, 614225; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset hereditary spastic paraplegia v0.28 RAB3GAP2 Louise Daugherty gene: RAB3GAP2 was added
gene: RAB3GAP2 was added to Hereditary spastic paraplegia - adult onset. Sources: South West GLH
Mode of inheritance for gene: RAB3GAP2 was set to