PQBP1

polyglutamine binding protein 1
OMIM: 300463, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Red PQBP1 in Kabuki syndrome

Level 3: Kabuki
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.4

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Kabuki-like syndrome
  • intellectual disability
  • long triangular face
  • bulbous nose
  • hypoplastic malar region
  • micrognathia
  • partial agenesis of corpus callosum
  • spasticity
  • contractures

Red PQBP1 in COVID-19 research


Level 2: Viral research
Version 1.8

review Unknown
Sources
  • Literature

Green PQBP1 in Severe microcephaly

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.6
Signed off v.2.2 on 2 Mar 2020

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • NHS GMS
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Renpenning syndrome 309500

Green PQBP1 in Fetal anomalies


Version 1.73
Signed off v.1.2 on 17 Feb 2020

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • RENPENNING S(YNDROME 1

Green PQBP1 in DDG2P


Version 2.8
Signed off v.2.2 on 13 Feb 2020

Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • RENPENNING S(YNDROME 1 309500

    Red PQBP1 in Clefting

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.3
    Signed off v.2.2 on 4 Mar 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert list
    Phenotypes
    • Renpenning syndrome, 309500

    Green PQBP1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.82
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    Phenotypes
    • Renpenning syndrome, 309500
    • RENPENNING S(YNDROME 1 (RENS1)

    Amber PQBP1 in Structural eye disease


    Version 1.5
    Signed off v.1.3 on 4 Mar 2020

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • Renpenning syndrome (can include microphthalmia/coloboma), 309500

    Green PQBP1 in Severe Paediatric Disorders


    Version 1.6

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Renpenning syndrome, 309500