Activity

Filter

Cancel
Date Panel Item Activity
17 actions
Adult onset hereditary spastic paraplegia v1.95 NKX6-2 Ivone Leong Tag Q3_21_phenotype was removed from gene: NKX6-2.
Adult onset hereditary spastic paraplegia v1.95 NKX6-2 Sarah Leigh commented on gene: NKX6-2
Adult onset hereditary spastic paraplegia v1.94 NKX6-2 Ivone Leong Source Expert Review Amber was added to NKX6-2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Adult onset hereditary spastic paraplegia v1.42 NKX6-2 Arina Puzriakova Tag Q3_21_phenotype tag was added to gene: NKX6-2.
Adult onset hereditary spastic paraplegia v1.42 NKX6-2 Arina Puzriakova reviewed gene: NKX6-2: Rating: ; Mode of pathogenicity: None; Publications: 28969374, 29388673, 28575651, 31509304, 32004679, 32246862; Phenotypes: Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, OMIM:617560; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v1.7 NKX6-2 Zornitza Stark reviewed gene: NKX6-2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Adult onset hereditary spastic paraplegia v0.148 NKX6-2 Louise Daugherty commented on gene: NKX6-2: 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 NKX6-2 Louise Daugherty Deleted their comment
Adult onset hereditary spastic paraplegia v0.111 NKX6-2 Louise Daugherty Publications for gene: NKX6-2 were set to
Adult onset hereditary spastic paraplegia v0.54 NKX6-2 Louise Daugherty Source Yorkshire and North East GLH was added to NKX6-2.
Adult onset hereditary spastic paraplegia v0.53 NKX6-2 Nick Beauchamp reviewed gene: NKX6-2: Rating: AMBER; Mode of pathogenicity: None; Publications: 28575651, 15601927, 29388673; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.53 NKX6-2 Louise Daugherty commented on gene: NKX6-2: 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 v0.6 NKX6-2 Louise Daugherty reviewed gene: NKX6-2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.5 NKX6-2 James Polke reviewed gene: NKX6-2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.4 NKX6-2 Louise Daugherty Source Expert Review Green was added to NKX6-2.
Mode of inheritance for gene NKX6-2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560 for gene: NKX6-2
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.3 NKX6-2 Louise Daugherty Source NHS GMS was added to NKX6-2.
Adult onset hereditary spastic paraplegia v0.2 NKX6-2 Louise Daugherty gene: NKX6-2 was added
gene: NKX6-2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: NKX6-2 was set to