Activity

Filter

Cancel
Date Panel Item Activity
14 actions
Prepair 1000+ v1.3 TTC7A Seb Lunke Added phenotypes Gastrointestinal defects and immunodeficiency syndrome, 243150 (3) for gene: TTC7A
Prepair 1000+ v1.3 SLC7A7 Seb Lunke Added phenotypes Lysinuric protein intolerance, 222700 (3) for gene: SLC7A7
Prepair 1000+ v0.103 C7 Zornitza Stark Marked gene: C7 as ready
Prepair 1000+ v0.103 C7 Zornitza Stark Gene: c7 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.103 C7 Zornitza Stark Publications for gene: C7 were set to
Prepair 1000+ v0.102 C7 Zornitza Stark Classified gene: C7 as Red List (low evidence)
Prepair 1000+ v0.102 C7 Zornitza Stark Gene: c7 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.99 C7 Zornitza Stark Tag for review was removed from gene: C7.
Prepair 1000+ v0.99 C7 Zornitza Stark reviewed gene: C7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: C7 deficiency (MIM#610102); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.58 C7 Zornitza Stark Tag for review tag was added to gene: C7.
Prepair 1000+ v0.58 C7 Crystle Lee reviewed gene: C7: Rating: AMBER; Mode of pathogenicity: None; Publications: 22206826, 20591074, 17407100, 16771861; Phenotypes: C7 deficiency (MIM#610102); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.0 TTC7A Zornitza Stark gene: TTC7A was added
gene: TTC7A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TTC7A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC7A were set to Gastrointestinal defects and immunodeficiency syndrome, 243150 (3)
Prepair 1000+ v0.0 SLC7A7 Zornitza Stark gene: SLC7A7 was added
gene: SLC7A7 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC7A7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC7A7 were set to Lysinuric protein intolerance, 222700 (3)
Prepair 1000+ v0.0 C7 Zornitza Stark gene: C7 was added
gene: C7 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: C7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C7 were set to C7 deficiency, 610102 (3)