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Mendeliome v0.8161 PPP1R21 Zornitza Stark Phenotypes for gene: PPP1R21 were changed from Hypotonia; intellectual disability; white matter abnormalities to Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities, MIM# 619383; Hypotonia; intellectual disability; white matter abnormalities
Mendeliome v0.8160 PPP1R21 Zornitza Stark edited their review of gene: PPP1R21: Changed phenotypes: Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities, MIM# 619383, Hypotonia, intellectual disability, white matter abnormalities
Mendeliome v0.216 PPP1R21 Zornitza Stark Marked gene: PPP1R21 as ready
Mendeliome v0.216 PPP1R21 Zornitza Stark Gene: ppp1r21 has been classified as Green List (High Evidence).
Mendeliome v0.216 PPP1R21 Zornitza Stark Classified gene: PPP1R21 as Green List (high evidence)
Mendeliome v0.216 PPP1R21 Zornitza Stark Gene: ppp1r21 has been classified as Green List (High Evidence).
Mendeliome v0.215 PPP1R21 Zornitza Stark gene: PPP1R21 was added
gene: PPP1R21 was added to Mendeliome_VCGS. Sources: Literature
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 Hypotonia; intellectual disability; white matter abnormalities
Review for gene: PPP1R21 was set to GREEN
Added comment: At least four unrelated families reported.
Sources: Literature