Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Prepair 1000+ v1.1670 | MPLKIP | Zornitza Stark Marked gene: MPLKIP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Prepair 1000+ v1.1670 | MPLKIP | Zornitza Stark Gene: mplkip has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Prepair 1000+ v1.1670 | MPLKIP | Zornitza Stark Phenotypes for gene: MPLKIP were changed from Trichothiodystrophy 4, nonphotosensitive, 234050 (3) to Trichothiodystrophy 4, nonphotosensitive MIM#234050 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Prepair 1000+ v1.1669 | MPLKIP | Zornitza Stark Publications for gene: MPLKIP were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Prepair 1000+ v1.287 | MPLKIP | Andrew Coventry reviewed gene: MPLKIP: Rating: GREEN; Mode of pathogenicity: None; Publications: 15645389 16977596; Phenotypes: Trichothiodystrophy 4, nonphotosensitive MIM#234050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Prepair 1000+ v0.0 | MPLKIP |
Zornitza Stark gene: MPLKIP was added gene: MPLKIP was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: MPLKIP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MPLKIP were set to Trichothiodystrophy 4, nonphotosensitive, 234050 (3) |