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Macrocephaly_Megalencephaly v0.148 | PPP2R5D | Ain Roesley Phenotypes for gene: PPP2R5D were changed from Houge-Janssens syndrome 1, MIM#616355 to Houge-Janssens syndrome 1, MIM#616355 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Macrocephaly_Megalencephaly v0.147 | PPP2R5D | Ain Roesley Phenotypes for gene: PPP2R5D were changed from Mental retardation, autosomal dominant 35, MIM# 616355 to Houge-Janssens syndrome 1, MIM#616355 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Macrocephaly_Megalencephaly v0.83 | PPP2R5D | Chirag Patel Classified gene: PPP2R5D as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Macrocephaly_Megalencephaly v0.83 | PPP2R5D | Chirag Patel Gene: ppp2r5d has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Macrocephaly_Megalencephaly v0.82 | PPP2R5D |
Chirag Patel gene: PPP2R5D was added gene: PPP2R5D was added to Macrocephaly_Megalencephaly. Sources: Literature Mode of inheritance for gene: PPP2R5D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PPP2R5D were set to PMID: 26168268, 25972378, 25533962; 34448180 Phenotypes for gene: PPP2R5D were set to Mental retardation, autosomal dominant 35, MIM# 616355 Review for gene: PPP2R5D was set to GREEN Added comment: Phenotype of macrocephaly is consistent, and multiple patients reported Sources: Literature |