1. Panels
  2. Kabuki syndrome
  3. PQBP1
STRs in panel
Prev Next
Regions in panel
Prev Next

Kabuki syndrome

Gene: PQBP1

Red List (low evidence)
PQBP1 (polyglutamine binding protein 1)
EnsemblGeneIds (GRCh38): ENSG00000102103
EnsemblGeneIds (GRCh37): ENSG00000102103
OMIM: 300463, Gene2Phenotype
PQBP1 is in 8 panels

2 reviews

Rebecca Foulger (Genomics England curator)

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.
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
Created: 11 May 2020, 3:35 p.m.
Last Modified: 11 May 2020, 3:35 p.m.
Panel version: 1.2

Cristina Dias (The Francis Crick Institute)

Red List (low evidence)

Kabuki-like features reported in Abdel-Salam et al, 2018 (PMID 30244542)
Sources: Literature
Created: 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

Created: 15 Oct 2019, 8:43 a.m.

Panel version: 1.2

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
Phenotypes
  • Kabuki-like syndrome
  • intellectual disability
  • long triangular face
  • bulbous nose
  • hypoplastic malar region
  • micrognathia
  • partial agenesis of corpus callosum
  • spasticity
  • contractures
OMIM
300463
Clinvar variants
Variants in PQBP1
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

11 May 2020, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

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

11 May 2020, Gel status: 1

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: pqbp1 has been classified as Red List (Low Evidence).

15 Oct 2019, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Cristina Dias (The Francis Crick Institute)

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