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Adult onset hereditary spastic paraplegia v4.3 AP4S1 Achchuthan Shanmugasundram Tag for-review was removed from gene: AP4S1.
Tag to_be_confirmed_NHSE was removed from gene: AP4S1.
Adult onset hereditary spastic paraplegia v4.3 AP4S1 Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated toamberfollowing NHS Genomic Medicine Service approval. The associated phenotype has childhood onset.; to: The rating of this gene has been updated to amber following NHS Genomic Medicine Service approval. The associated phenotype has childhood onset.
Adult onset hereditary spastic paraplegia v4.3 AP4S1 Achchuthan Shanmugasundram reviewed gene: AP4S1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v4.2 AP4S1 Achchuthan Shanmugasundram Source Expert Review Amber was added to AP4S1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Adult onset hereditary spastic paraplegia v1.95 AP4S1 Sarah Leigh commented on gene: AP4S1
Adult onset hereditary spastic paraplegia v1.95 AP4S1 Sarah Leigh Tag to_be_confirmed_NHSE tag was added to gene: AP4S1.
Adult onset hereditary spastic paraplegia v1.16 AP4S1 Arina Puzriakova Tag for-review tag was added to gene: AP4S1.
Adult onset hereditary spastic paraplegia v1.16 AP4S1 Arina Puzriakova commented on gene: AP4S1
Adult onset hereditary spastic paraplegia v1.7 AP4S1 Zornitza Stark reviewed gene: AP4S1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Adult onset hereditary spastic paraplegia v0.148 AP4S1 Louise Daugherty commented on gene: AP4S1: 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 AP4S1 Louise Daugherty Deleted their comment
Adult onset hereditary spastic paraplegia v0.65 AP4S1 Louise Daugherty Publications for gene: AP4S1 were set to
Adult onset hereditary spastic paraplegia v0.54 AP4S1 Louise Daugherty Source Yorkshire and North East GLH was added to AP4S1.
Adult onset hereditary spastic paraplegia v0.53 AP4S1 Louise Daugherty commented on gene: AP4S1: 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 AP4S1 Nick Beauchamp reviewed gene: AP4S1: Rating: AMBER; Mode of pathogenicity: None; Publications: 21620353, 27444738, 25552650; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset hereditary spastic paraplegia v0.6 AP4S1 Louise Daugherty reviewed gene: AP4S1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.5 AP4S1 James Polke reviewed gene: AP4S1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 52, autosomal recessive, 614067, developmental delay, seizures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.4 AP4S1 Louise Daugherty Source Expert Review Green was added to AP4S1.
Mode of inheritance for gene AP4S1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes seizures; developmental delay; Spastic paraplegia 52, autosomal recessive, 614067 for gene: AP4S1
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.3 AP4S1 Louise Daugherty Source NHS GMS was added to AP4S1.
Adult onset hereditary spastic paraplegia v0.2 AP4S1 Louise Daugherty gene: AP4S1 was added
gene: AP4S1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: AP4S1 was set to