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Hereditary spastic paraplegia, childhood onset v1.166 CAPN1 Louise Daugherty commented on gene: CAPN1: Amber gene with Green 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.
Hereditary spastic paraplegia, childhood onset v1.165 CAPN1 Louise Daugherty Source Expert Review Green was added to CAPN1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary spastic paraplegia, childhood onset v1.142 CAPN1 Louise Daugherty Publications for gene: CAPN1 were set to 27153400
Hereditary spastic paraplegia, childhood onset v1.141 CAPN1 Louise Daugherty Deleted their comment
Hereditary spastic paraplegia, childhood onset v1.75 CAPN1 Louise Daugherty Source Yorkshire and North East GLH was added to CAPN1.
Hereditary spastic paraplegia, childhood onset v1.74 CAPN1 Louise Daugherty commented on gene: CAPN1: 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.
Hereditary spastic paraplegia, childhood onset v1.73 CAPN1 Nick Beauchamp reviewed gene: CAPN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27153400, 29678961, 28566166; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia, childhood onset v1.48 CAPN1 Louise Daugherty edited their review of gene: CAPN1: Added comment: Review and rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.; Changed rating: AMBER
Hereditary spastic paraplegia, childhood onset v1.6 CAPN1 James Polke reviewed gene: CAPN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 76 autosomal recessive, 616907; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia, childhood onset v1.5 CAPN1 Louise Daugherty Source NHS GMS was added to CAPN1.
Hereditary spastic paraplegia, childhood onset v1.4 CAPN1 Louise Daugherty Source London North GLH was added to CAPN1.
Hereditary spastic paraplegia, childhood onset v1.3 CAPN1 Louise Daugherty Added phenotypes Spastic paraplegia 76 autosomal recessive, 616907 for gene: CAPN1
Hereditary spastic paraplegia, childhood onset v0.90 CAPN1 Louise Daugherty Publications for gene: CAPN1 were set to
Hereditary spastic paraplegia, childhood onset v0.89 CAPN1 Louise Daugherty Classified gene: CAPN1 as Amber List (moderate evidence)
Hereditary spastic paraplegia, childhood onset v0.89 CAPN1 Louise Daugherty Added comment: Comment on list classification: changed to Amber after internal clinical review
Hereditary spastic paraplegia, childhood onset v0.89 CAPN1 Louise Daugherty Gene: capn1 has been classified as Amber List (Moderate Evidence).
Hereditary spastic paraplegia, childhood onset v0.62 CAPN1 Arianna Tucci reviewed gene: CAPN1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary spastic paraplegia, childhood onset v0.6 CAPN1 Sarah Leigh gene: CAPN1 was added
gene: CAPN1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: CAPN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CAPN1 were set to Spastic paraplegia 76 autosomal recessive, 616907