Activity

Filter

Cancel
Date Panel Item Activity
6 actions
Hereditary Spastic Paraplegia - paediatric v0.188 NKX6-2 Zornitza Stark Marked gene: NKX6-2 as ready
Hereditary Spastic Paraplegia - paediatric v0.188 NKX6-2 Zornitza Stark Gene: nkx6-2 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - paediatric v0.188 NKX6-2 Zornitza Stark 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; MONDO:0033043
Hereditary Spastic Paraplegia - paediatric v0.187 NKX6-2 Zornitza Stark Publications for gene: NKX6-2 were set to
Hereditary Spastic Paraplegia - paediatric v0.186 NKX6-2 Zornitza Stark reviewed gene: NKX6-2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28575651, 15601927, 32246862, 32004679; Phenotypes: Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, MIM# 617560; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia - paediatric v0.0 NKX6-2 Bryony Thompson gene: NKX6-2 was added
gene: NKX6-2 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: NKX6-2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NKX6-2 were set to Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560