Activity

Filter

Panel

Version

Gene or Genomic Entity Name

Date from

Date to

Date	Panel	Item	Activity
Filter activities 26 actions
06 Sep 2019	Adult onset hereditary spastic paraplegia v0.155	MARS	Louise Daugherty Tag new-gene-name tag was added to gene: MARS.
06 Sep 2019	Adult onset hereditary spastic paraplegia v0.155	MARS	Louise Daugherty commented on gene: MARS: Added new-gene-name tag, new approved HGNC gene symbol for MARS is MARS1
21 May 2019	Adult onset hereditary spastic paraplegia v0.148	MARS2	Louise Daugherty commented on gene: MARS2: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Amber rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
21 May 2019	Adult onset hereditary spastic paraplegia v0.147	MARS2	Louise Daugherty Source Expert Review Amber was added to MARS2. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
13 May 2019	Adult onset hereditary spastic paraplegia v0.108	MARS	Louise Daugherty Publications for gene: MARS were set to Novarino et al. (2014)
13 May 2019	Adult onset hereditary spastic paraplegia v0.107	MARS	Louise Daugherty Mode of inheritance for gene: MARS was changed from to BIALLELIC, autosomal or pseudoautosomal
13 May 2019	Adult onset hereditary spastic paraplegia v0.55	MARS	Louise Daugherty Source NHS GMS was added to MARS.
13 May 2019	Adult onset hereditary spastic paraplegia v0.54	MARS2	Louise Daugherty Source Yorkshire and North East GLH was added to MARS2.
13 May 2019	Adult onset hereditary spastic paraplegia v0.54	MARS	Louise Daugherty Source Yorkshire and North East GLH was added to MARS.
10 May 2019	Adult onset hereditary spastic paraplegia v0.53	MARS	Nick Beauchamp reviewed gene: MARS: Rating: RED; Mode of pathogenicity: None; Publications: 24482476; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
10 May 2019	Adult onset hereditary spastic paraplegia v0.53	MARS2	Nick Beauchamp reviewed gene: MARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22448145; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
09 May 2019	Adult onset hereditary spastic paraplegia v0.53	MARS2	Louise Daugherty commented on gene: MARS2: 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.
27 Apr 2019	Adult onset hereditary spastic paraplegia v0.42	MARS2	Louise Daugherty commented on gene: MARS2: 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.
27 Apr 2019	Adult onset hereditary spastic paraplegia v0.42	MARS	Louise Daugherty reviewed gene: MARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
27 Apr 2019	Adult onset hereditary spastic paraplegia v0.40	MARS2	Louise Daugherty Mode of inheritance for gene: MARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
27 Apr 2019	Adult onset hereditary spastic paraplegia v0.30	MARS2	Louise Daugherty Added phenotypes Spastic ataxia 3, autosomal recessive for gene: MARS2 Publications for gene MARS2 were changed from to Bayat (2012), 22448145
27 Apr 2019	Adult onset hereditary spastic paraplegia v0.30	MARS	Louise Daugherty Publications for gene MARS were changed from to Novarino et al. (2014)
27 Apr 2019	Adult onset hereditary spastic paraplegia v0.29	MARS2	Chris Buxton reviewed gene: MARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: Bayat (2012), 22448145; Phenotypes: Spastic ataxia 3, autosomal recessive ; Mode of inheritance:
27 Apr 2019	Adult onset hereditary spastic paraplegia v0.29	MARS	Chris Buxton reviewed gene: MARS: Rating: RED; Mode of pathogenicity: ; Publications: Novarino et al. (2014); Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
27 Apr 2019	Adult onset hereditary spastic paraplegia v0.28	MARS2	Louise Daugherty Source South West GLH was added to MARS2.
27 Apr 2019	Adult onset hereditary spastic paraplegia v0.28	MARS	Louise Daugherty gene: MARS was added gene: MARS was added to Hereditary spastic paraplegia - adult onset. Sources: South West GLH Mode of inheritance for gene: MARS was set to
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.6	MARS2	Louise Daugherty reviewed gene: MARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.5	MARS2	James Polke reviewed gene: MARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia 3, autosomal recessive, 611390; Mode of inheritance:
25 Apr 2019	Adult onset hereditary spastic paraplegia v0.4	MARS2	Louise Daugherty Source Expert Review Green was added to MARS2. Added phenotypes Spastic ataxia 3, autosomal recessive, 611390 for gene: MARS2 Rating Changed from Red List (low evidence) to Green List (high evidence)
24 Apr 2019	Adult onset hereditary spastic paraplegia v0.3	MARS2	Louise Daugherty Source NHS GMS was added to MARS2.
24 Apr 2019	Adult onset hereditary spastic paraplegia v0.2	MARS2	Louise Daugherty gene: MARS2 was added gene: MARS2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: MARS2 was set to