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Adult onset hereditary spastic paraplegia v1.95 REEP2 Ivone Leong Tag Q3_21_phenotype was removed from gene: REEP2.
Adult onset hereditary spastic paraplegia v1.95 REEP2 Sarah Leigh commented on gene: REEP2
Adult onset hereditary spastic paraplegia v1.94 REEP2 Ivone Leong Source Expert Review Amber was added to REEP2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Adult onset hereditary spastic paraplegia v1.46 REEP2 Arina Puzriakova Publications for gene: REEP2 were set to 24388663; 28491902; 24482476
Adult onset hereditary spastic paraplegia v1.45 REEP2 Arina Puzriakova Tag Q3_21_phenotype tag was added to gene: REEP2.
Adult onset hereditary spastic paraplegia v1.45 REEP2 Arina Puzriakova reviewed gene: REEP2: Rating: ; Mode of pathogenicity: None; Publications: 24388663, 24482476, 28491902, 33526816; Phenotypes: Spastic paraplegia 72, autosomal recessive, OMIM:615625, Spastic paraplegia 72, autosomal dominant, OMIM:615625; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v1.7 REEP2 Zornitza Stark reviewed gene: REEP2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Adult onset hereditary spastic paraplegia v0.148 REEP2 Louise Daugherty commented on gene: REEP2: 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 REEP2 Louise Daugherty Deleted their comment
Adult onset hereditary spastic paraplegia v0.121 REEP2 Louise Daugherty Publications for gene: REEP2 were set to 24388663
Adult onset hereditary spastic paraplegia v0.54 REEP2 Louise Daugherty Source Yorkshire and North East GLH was added to REEP2.
Adult onset hereditary spastic paraplegia v0.53 REEP2 Nick Beauchamp reviewed gene: REEP2: Rating: AMBER; Mode of pathogenicity: None; Publications: 24388663, 28491902, 24482476; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset hereditary spastic paraplegia v0.53 REEP2 Louise Daugherty commented on gene: REEP2: 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 v0.42 REEP2 Louise Daugherty commented on gene: REEP2: Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.30 REEP2 Louise Daugherty Added phenotypes ?Spastic paraplegia 72, autosomal dominant,615625; ?Spastic paraplegia 72, autosomal recessive, 615625 for gene: REEP2
Publications for gene REEP2 were changed from to 24388663
Adult onset hereditary spastic paraplegia v0.29 REEP2 Chris Buxton reviewed gene: REEP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 24388663; Phenotypes: ?Spastic paraplegia 72, autosomal recessive, 615625, ?Spastic paraplegia 72, autosomal dominant,615625; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.28 REEP2 Louise Daugherty Source South West GLH was added to REEP2.
Adult onset hereditary spastic paraplegia v0.6 REEP2 Louise Daugherty reviewed gene: REEP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.5 REEP2 James Polke reviewed gene: REEP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Spastic paraplegia 72, autosomal recessive, 615625, ?Spastic paraplegia 72, autosomal dominant, 615625; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.4 REEP2 Louise Daugherty Source Expert Review Green was added to REEP2.
Mode of inheritance for gene REEP2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes ?Spastic paraplegia 72, autosomal dominant, 615625; ?Spastic paraplegia 72, autosomal recessive, 615625 for gene: REEP2
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.3 REEP2 Louise Daugherty Source NHS GMS was added to REEP2.
Adult onset hereditary spastic paraplegia v0.2 REEP2 Louise Daugherty gene: REEP2 was added
gene: REEP2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: REEP2 was set to