Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Prepair 1000+ v1.1541 | PIEZO2 | Zornitza Stark Marked gene: PIEZO2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Prepair 1000+ v1.1541 | PIEZO2 | Zornitza Stark Gene: piezo2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Prepair 1000+ v1.1541 | PIEZO2 | Zornitza Stark Phenotypes for gene: PIEZO2 were changed from Arthrogryposis, distal, with impaired proprioception and touch, 617146 (3), Autosomal recessive to Arthrogryposis, distal, with impaired proprioception and touch, MIM#617146 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Prepair 1000+ v1.1540 | PIEZO2 | Zornitza Stark Publications for gene: PIEZO2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Prepair 1000+ v1.1456 | PIEZO2 | Clare Hunt reviewed gene: PIEZO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27653382, 27843126, 27912047, 27974811; Phenotypes: Arthrogryposis, distal, with impaired proprioception and touch, MIM#617146; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Prepair 1000+ v0.0 | PIEZO2 |
Zornitza Stark gene: PIEZO2 was added gene: PIEZO2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PIEZO2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PIEZO2 were set to Arthrogryposis, distal, with impaired proprioception and touch, 617146 (3), Autosomal recessive |