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| Kabuki syndrome v1.4 | PQBP1 | Rebecca Foulger Phenotypes for gene: PQBP1 were changed from intellectual disability; long triangular face; bulbous nose; hypoplastic malar region; micrognathia; partial agenesis of corpus callosum; spasticity; contractures to Kabuki-like syndrome; intellectual disability; long triangular face; bulbous nose; hypoplastic malar region; micrognathia; partial agenesis of corpus callosum; spasticity; contractures | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Kabuki syndrome v1.3 | PQBP1 | Rebecca Foulger Classified gene: PQBP1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Kabuki syndrome v1.3 | PQBP1 | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Grey to Red. Gene was added to the panel and rated Red by Cristina Dias. 1 individual in PMID:30244542 with PQBP1 hemizygous variant and Kabuki-like dysmorphic facial features. Therefore Red rating appropriate awaiting further cases that expand the phenotypic spectrum of PQBP1 disorders. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Kabuki syndrome v1.3 | PQBP1 | Rebecca Foulger Gene: pqbp1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Kabuki syndrome v1.2 | PQBP1 | Rebecca Foulger commented on gene: PQBP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Kabuki syndrome v1.2 | PQBP1 |
Cristina Dias gene: PQBP1 was added gene: PQBP1 was added to Kabuki syndrome. Sources: Literature Mode of inheritance for gene: PQBP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PQBP1 were set to 30244542 Phenotypes for gene: PQBP1 were set to intellectual disability; long triangular face; bulbous nose; hypoplastic malar region; micrognathia; partial agenesis of corpus callosum; spasticity; contractures Penetrance for gene: PQBP1 were set to unknown Review for gene: PQBP1 was set to RED Added comment: Kabuki-like features reported in Abdel-Salam et al, 2018 (PMID 30244542) Sources: Literature |
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