Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Leukodystrophy - paediatric v0.224 | PPP1R21 | Zornitza Stark Marked gene: PPP1R21 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Leukodystrophy - paediatric v0.224 | PPP1R21 | Zornitza Stark Gene: ppp1r21 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Leukodystrophy - paediatric v0.224 | PPP1R21 | Zornitza Stark Classified gene: PPP1R21 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Leukodystrophy - paediatric v0.224 | PPP1R21 | Zornitza Stark Gene: ppp1r21 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Leukodystrophy - paediatric v0.223 | PPP1R21 |
Zornitza Stark gene: PPP1R21 was added gene: PPP1R21 was added to Leukodystrophy - paediatric. Sources: Expert Review Mode of inheritance for gene: PPP1R21 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PPP1R21 were set to 30520571 Phenotypes for gene: PPP1R21 were set to Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities, MIM# 619383; Hypotonia; intellectual disability; white matter abnormalities Review for gene: PPP1R21 was set to GREEN Added comment: At least four unrelated families reported. Sources: Expert Review |