Activity

Filter

Cancel
Date Panel Item Activity
10 actions
Cerebellar and Pontocerebellar Hypoplasia v2.0 SLC25A46 Gene migrated from ENSG00000164209 to ENSG00000164209 (gene set migration)
Cerebellar and Pontocerebellar Hypoplasia v1.9 SLC25A46 Zornitza Stark Phenotypes for gene: SLC25A46 were changed from Neuropathy, hereditary motor and sensory, type VIB (MIM#616505) to Pontocerebellar hypoplasia, type 1E, MIM# 619303
Cerebellar and Pontocerebellar Hypoplasia v1.8 SLC25A46 Zornitza Stark reviewed gene: SLC25A46: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pontocerebellar hypoplasia, type 1E, MIM# 619303; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.83 SLC25A46 Zornitza Stark Marked gene: SLC25A46 as ready
Cerebellar and Pontocerebellar Hypoplasia v0.83 SLC25A46 Zornitza Stark Gene: slc25a46 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.83 SLC25A46 Zornitza Stark Phenotypes for gene: SLC25A46 were changed from to Neuropathy, hereditary motor and sensory, type VIB (MIM#616505)
Cerebellar and Pontocerebellar Hypoplasia v0.82 SLC25A46 Zornitza Stark Publications for gene: SLC25A46 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.81 SLC25A46 Zornitza Stark Mode of inheritance for gene: SLC25A46 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.68 SLC25A46 Crystle Lee reviewed gene: SLC25A46: Rating: GREEN; Mode of pathogenicity: None; Publications: 27543974, 28637197, 28376086, 26168012; Phenotypes: Neuropathy, hereditary motor and sensory, type VIB (MIM#616505); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v0.0 SLC25A46 Zornitza Stark gene: SLC25A46 was added
gene: SLC25A46 was added to Cerebellar and Pontocerebellar hypoplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC25A46 was set to Unknown