Activity

Filter

Cancel
Date Panel Item Activity
13 actions
Childhood onset hereditary spastic paraplegia v2.61 NKX6-2 Arina Puzriakova Phenotypes for gene: NKX6-2 were changed from Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560 to Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560
Childhood onset hereditary spastic paraplegia v1.164 NKX6-2 Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.121 NKX6-2 Louise Daugherty Publications for gene: NKX6-2 were set to 15601927; 28575651
Childhood onset hereditary spastic paraplegia v1.75 NKX6-2 Louise Daugherty Source Yorkshire and North East GLH was added to NKX6-2.
Childhood onset hereditary spastic paraplegia v1.74 NKX6-2 Nick Beauchamp reviewed gene: NKX6-2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28575651, 15601927, 29388673; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.74 NKX6-2 Louise Daugherty commented on gene: NKX6-2: 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.
Childhood onset hereditary spastic paraplegia v1.48 NKX6-2 Louise Daugherty reviewed gene: NKX6-2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.6 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
Childhood onset hereditary spastic paraplegia v1.5 NKX6-2 Louise Daugherty Source NHS GMS was added to NKX6-2.
Childhood onset hereditary spastic paraplegia v1.4 NKX6-2 Louise Daugherty Source London North GLH was added to NKX6-2.
Childhood onset hereditary spastic paraplegia v1.3 NKX6-2 Louise Daugherty Added phenotypes Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560 for gene: NKX6-2
Childhood onset hereditary spastic paraplegia v0.62 NKX6-2 Arianna Tucci commented on gene: NKX6-2
Childhood onset hereditary spastic paraplegia v0.6 NKX6-2 Sarah Leigh gene: NKX6-2 was added
gene: NKX6-2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Green,Literature
Mode of inheritance for gene: NKX6-2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NKX6-2 were set to 15601927; 28575651
Phenotypes for gene: NKX6-2 were set to Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560