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Adult onset hereditary spastic paraplegia v1.95 ERLIN1 Ivone Leong Tag Q3_21_phenotype was removed from gene: ERLIN1.
Adult onset hereditary spastic paraplegia v1.95 ERLIN1 Sarah Leigh commented on gene: ERLIN1
Adult onset hereditary spastic paraplegia v1.94 ERLIN1 Ivone Leong Source Expert Review Amber was added to ERLIN1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Adult onset hereditary spastic paraplegia v1.35 ERLIN1 Arina Puzriakova Tag Q3_21_phenotype tag was added to gene: ERLIN1.
Adult onset hereditary spastic paraplegia v1.35 ERLIN1 Arina Puzriakova commented on gene: ERLIN1
Adult onset hereditary spastic paraplegia v1.7 ERLIN1 Zornitza Stark reviewed gene: ERLIN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Adult onset hereditary spastic paraplegia v0.148 ERLIN1 Louise Daugherty commented on gene: ERLIN1: 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 ERLIN1 Louise Daugherty Deleted their comment
Adult onset hereditary spastic paraplegia v0.54 ERLIN1 Louise Daugherty Source Yorkshire and North East GLH was added to ERLIN1.
Adult onset hereditary spastic paraplegia v0.53 ERLIN1 Louise Daugherty commented on gene: ERLIN1: 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 v0.52 ERLIN1 Nick Beauchamp reviewed gene: ERLIN1: Rating: AMBER; Mode of pathogenicity: None; Publications: 24482476; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset hereditary spastic paraplegia v0.42 ERLIN1 Louise Daugherty commented on gene: ERLIN1: 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 ERLIN1 Louise Daugherty Added phenotypes Hereditary spastic paraplegia; Spastic paraplegia 62, 615681 for gene: ERLIN1
Publications for gene ERLIN1 were changed from to 24482476
Adult onset hereditary spastic paraplegia v0.29 ERLIN1 Chris Buxton reviewed gene: ERLIN1: Rating: AMBER; Mode of pathogenicity: ; Publications: 24482476; Phenotypes: Hereditary spastic paraplegia, Spastic paraplegia 62, 615681; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.28 ERLIN1 Louise Daugherty Source South West GLH was added to ERLIN1.
Adult onset hereditary spastic paraplegia v0.6 ERLIN1 Louise Daugherty reviewed gene: ERLIN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.5 ERLIN1 James Polke reviewed gene: ERLIN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary spastic paraplegia, Spastic paraplegia 62, 615681; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.4 ERLIN1 Louise Daugherty Source Expert Review Green was added to ERLIN1.
Mode of inheritance for gene ERLIN1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Hereditary spastic paraplegia; Spastic paraplegia 62, 615681 for gene: ERLIN1
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.3 ERLIN1 Louise Daugherty Source NHS GMS was added to ERLIN1.
Adult onset hereditary spastic paraplegia v0.2 ERLIN1 Louise Daugherty gene: ERLIN1 was added
gene: ERLIN1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: ERLIN1 was set to