Kabuki syndrome
Gene: PQBP1Comment 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.Created: 11 May 2020, 3:37 p.m. | Last Modified: 11 May 2020, 3:37 p.m.
Panel Version: 1.3
PMID:30244542 (Abdel-Salam et al., 2018) report 4 male patients from 2 unrelated Egyptian families with hemizygous variants in PQBP1. The 3 patients of the first family had a nonsense p.R196* variant and displayed features including long triangular face, bulbous nose, hypoplastic malar region, and micrognathia (features typical of PQBP1 syndromes). The second family had a patient with ID, dysmorphic facial features reminiscent of Kabuki-like syndrome and p.R177H variant in PQBP1.Created: 11 May 2020, 3:35 p.m. | Last Modified: 11 May 2020, 3:35 p.m.
Panel Version: 1.2
Kabuki-like features reported in Abdel-Salam et al, 2018 (PMID 30244542)
Sources: LiteratureCreated: 15 Oct 2019, 8:43 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
intellectual disability; long triangular face; bulbous nose; hypoplastic malar region; micrognathia; partial agenesis of corpus callosum; spasticity; contractures
Publications
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
Gene: pqbp1 has been classified as Red List (Low Evidence).
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